FRMD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	ACAT2, AFDN +563 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	ACAT2, AFDN +539 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	ACAT2, AFDN +339 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	C6orf118, C6orf120 +321 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +299 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +297 more	Copy number loss	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +277 more	Copy number loss	See cases	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +254 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	AFDN, AFDN-DT +247 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +243 more	Copy number loss	See cases	GPathogenic
Select item 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +224 more	Copy number loss	See cases	GPathogenic
Select item 146089	GRCh38/hg38 6q27(chr6:164790270-170612001)x1	AFDN, AFDN-DT +203 more	Copy number loss	See cases	GPathogenic
Select item 58472	GRCh38/hg38 6q27(chr6:166370159-170602152)x1	AFDN, AFDN-DT +168 more	Copy number loss	See cases	GPathogenic
Select item 148449	GRCh38/hg38 6q27(chr6:167145050-170714507)x1	AFDN, AFDN-DT +112 more	Copy number loss	See cases	GPathogenic
Select item 155515	GRCh38/hg38 6q27(chr6:167760366-170610394)x1	AFDN, AFDN-DT +87 more	Copy number loss	See cases	GPathogenic
Select item 152206	GRCh38/hg38 6q27(chr6:167896913-170714507)x1	AFDN, C6orf120 +78 more	Copy number loss	See cases	GPathogenic
Select item 58474	GRCh38/hg38 6q27(chr6:167924952-170602152)x1	PHF10, PSMB1 +77 more	Copy number loss	See cases	GPathogenic
Select item 152717	GRCh38/hg38 6q27(chr6:167933399-168918688)x3	AFDN, DACT2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 147716	GRCh38/hg38 6q27(chr6:167943161-168376252)x3	AFDN, DACT2 +13 more	Copy number gain	See cases	GBenign
Select item 150784	GRCh38/hg38 6q27(chr6:167963618-168218824)x3	AFDN, FRMD1 +8 more	Copy number gain	See cases	GLikely benign
Select item 150709	GRCh38/hg38 6q27(chr6:167963618-170597678)x1	AFDN, C6orf120 +77 more	Copy number loss	See cases	GPathogenic
Select item 149353	GRCh38/hg38 6q27(chr6:167963618-168157198)x3	AFDN, FRMD1 +5 more	Copy number gain	See cases	GBenign/Likely benign
Select item 161027	GRCh38/hg38 6q27(chr6:167963663-168157303)x3	AFDN, FRMD1 +5 more	Copy number gain	See cases	GBenign
Select item 59804	GRCh38/hg38 6q27(chr6:167963663-168157303)x3	AFDN, FRMD1 +5 more	Copy number gain	See cases	GBenign
Select item 153082	GRCh38/hg38 6q27(chr6:168018868-168148542)x3	FRMD1, KIF25	Copy number gain	See cases	GBenign
Select item 147594	GRCh38/hg38 6q27(chr6:168018868-168256239)x3	FRMD1, KIF25 +5 more	Copy number gain	See cases	GBenign
Select item 153091	GRCh38/hg38 6q27(chr6:168046443-168256239)x3	FRMD1, LOC101929420 +4 more	Copy number gain	See cases	GBenign
Select item 2342182	NM_024919.6(FRMD1):c.1625C>A (p.Ala542Asp)	FRMD1 (A474D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3025526	NM_024919.6(FRMD1):c.1497G>A (p.Ala499=)	FRMD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3096874	NM_024919.6(FRMD1):c.1483G>T (p.Ala495Ser)	FRMD1 (A427S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096873	NM_024919.6(FRMD1):c.1483G>C (p.Ala495Pro)	FRMD1 (A427P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360002	NM_024919.6(FRMD1):c.1472T>A (p.Leu491Gln)	FRMD1 (L423Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391509	NM_024919.6(FRMD1):c.1399G>A (p.Val467Met)	FRMD1 (V402M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615129	NM_024919.6(FRMD1):c.1378A>G (p.Arg460Gly)	FRMD1 (R392G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458394	NM_024919.6(FRMD1):c.1349G>A (p.Arg450His)	FRMD1 (R382H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096872	NM_024919.6(FRMD1):c.1334A>G (p.Asp445Gly)	FRMD1 (D445G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318698	NM_024919.6(FRMD1):c.1327C>T (p.Arg443Cys)	FRMD1 (R375C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3096871	NM_024919.6(FRMD1):c.1298C>G (p.Pro433Arg)	FRMD1 (P433R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378896	NM_024919.6(FRMD1):c.1267G>A (p.Gly423Arg)	FRMD1 (G423R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241003	NM_024919.6(FRMD1):c.1243G>A (p.Val415Met)	FRMD1 (V415M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305502	NM_024919.6(FRMD1):c.1227A>T (p.Glu409Asp)	FRMD1 (E344D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096870	NM_024919.6(FRMD1):c.1206G>T (p.Lys402Asn)	FRMD1 (K337N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603800	NM_024919.6(FRMD1):c.1159C>T (p.Arg387Cys)	FRMD1 (R319C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272804	NM_024919.6(FRMD1):c.1153C>T (p.Leu385Phe)	FRMD1 (L385F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775244	NM_024919.6(FRMD1):c.1149C>A (p.His383Gln)	FRMD1 (H383Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2334928	NM_024919.6(FRMD1):c.1106G>C (p.Arg369Thr)	FRMD1 (R369T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096869	NM_024919.6(FRMD1):c.1103G>C (p.Ser368Thr)	FRMD1 (S300T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096868	NM_024919.6(FRMD1):c.1060C>T (p.Arg354Trp)	FRMD1 (R289W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239979	NM_024919.6(FRMD1):c.1031G>C (p.Arg344Pro)	FRMD1 (R279P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096867	NM_024919.6(FRMD1):c.1004G>A (p.Arg335Gln)	FRMD1 (R335Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2384161	NM_024919.6(FRMD1):c.1003C>T (p.Arg335Trp)	FRMD1 (R267W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513803	NM_024919.6(FRMD1):c.1000G>A (p.Val334Met)	FRMD1 (V266M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360837	NM_024919.6(FRMD1):c.985C>G (p.Gln329Glu)	FRMD1 (Q261E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470848	NM_024919.6(FRMD1):c.973C>T (p.Arg325Cys)	FRMD1 (R260C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096884	NM_024919.6(FRMD1):c.966C>G (p.His322Gln)	FRMD1 (H257Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389021	NM_024919.6(FRMD1):c.859C>T (p.His287Tyr)	FRMD1 (H199Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096883	NM_024919.6(FRMD1):c.775G>A (p.Val259Met)	FRMD1 (V191M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321221	NM_024919.6(FRMD1):c.763C>T (p.Arg255Trp)	FRMD1 (R167W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359934	NM_024919.6(FRMD1):c.751C>G (p.Gln251Glu)	FRMD1 (Q163E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593084	NM_024919.6(FRMD1):c.704G>A (p.Arg235His)	FRMD1 (R147H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374291	NM_024919.6(FRMD1):c.703C>T (p.Arg235Cys)	FRMD1 (R167C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657137	NM_024919.6(FRMD1):c.663G>A (p.Arg221=)	FRMD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3096881	NM_024919.6(FRMD1):c.635A>G (p.Tyr212Cys)	FRMD1 (Y124C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096880	NM_024919.6(FRMD1):c.622G>A (p.Glu208Lys)	FRMD1 (E208K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397639	NM_024919.6(FRMD1):c.605A>G (p.His202Arg)	FRMD1 (H114R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096879	NM_024919.6(FRMD1):c.593G>A (p.Arg198Gln)	FRMD1 (R110Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521595	NM_024919.6(FRMD1):c.592C>T (p.Arg198Trp)	FRMD1 (R110W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397516	NM_024919.6(FRMD1):c.566C>T (p.Ala189Val)	FRMD1 (A121V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 638307	NM_024919.6(FRMD1):c.508G>A (p.Val170Met)	FRMD1 (V170M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 587444	NM_024919.6(FRMD1):c.508G>T (p.Val170Leu)	FRMD1 (V170L +2 more)	Single nucleotide variant (missense variant +1 more)	Distal myopathy with posterior leg and anterior hand involvement	GUncertain significance
Select item 2218072	NM_024919.6(FRMD1):c.504G>C (p.Glu168Asp)	FRMD1 (E168D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400626	NM_024919.6(FRMD1):c.476G>A (p.Arg159Gln)	FRMD1 (R159Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476226	NM_024919.6(FRMD1):c.475C>T (p.Arg159Trp)	FRMD1 (R71W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210224	NM_024919.6(FRMD1):c.470G>A (p.Arg157Lys)	FRMD1 (R157K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774450	NM_024919.6(FRMD1):c.461+6G>A	FRMD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775245	NM_024919.6(FRMD1):c.448G>A (p.Gly150Arg)	FRMD1 (G150R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3096878	NM_024919.6(FRMD1):c.412G>A (p.Val138Met)	FRMD1 (V70M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237394	NM_024919.6(FRMD1):c.403G>A (p.Ala135Thr)	FRMD1 (A135T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602005	NM_024919.6(FRMD1):c.397C>T (p.Pro133Ser)	FRMD1 (P133S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272177	NM_024919.6(FRMD1):c.322A>T (p.Met108Leu)	FRMD1 (M20L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096877	NM_024919.6(FRMD1):c.275C>T (p.Ala92Val)	FRMD1 (A92V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096876	NM_024919.6(FRMD1):c.274G>A (p.Ala92Thr)	FRMD1 (A24T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 734654	NM_024919.6(FRMD1):c.255C>A (p.Asn85Lys)	FRMD1 (N17K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2604611	NM_024919.6(FRMD1):c.203T>C (p.Leu68Pro)	FRMD1 (L68P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096875	NM_024919.6(FRMD1):c.190G>C (p.Glu64Gln)	FRMD1 (E64Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521525	NM_024919.6(FRMD1):c.164A>T (p.Asp55Val)	FRMD1 (D55V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347133	NM_024919.6(FRMD1):c.164A>G (p.Asp55Gly)	FRMD1 (D55G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589465	NM_024919.6(FRMD1):c.48C>A (p.Asn16Lys)	FRMD1 (N16K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219392	NM_024919.6(FRMD1):c.37G>A (p.Ala13Thr)	FRMD1 (A13T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2657138	NM_024919.6(FRMD1):c.36C>T (p.Pro12=)	FRMD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2401665	NM_024919.6(FRMD1):c.5C>T (p.Ala2Val)	FRMD1 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657139	NR_110312.2(FRMD1):n.139G>A	FRMD1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2657140	NR_110312.2(FRMD1):n.115G>A	FRMD1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	AFDN, C6orf118 +33 more	Copy number loss	not provided	GPathogenic

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