ClinVar for Gene (Select 135114) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062929	GRCh37/hg19 6q22.31-22.33(chr6:124515654-130227224)x1	ARHGAP18, C6orf58 +19 more	Copy number loss	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2611506	NM_138571.5(HINT3):c.230T>C (p.Ile77Thr)	HINT3 (I77T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589767	NM_138571.5(HINT3):c.380C>T (p.Thr127Met)	HINT3 (T127M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2542422	NM_138571.5(HINT3):c.38C>T (p.Ala13Val)	HINT3 (A13V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527809	NM_138571.5(HINT3):c.166C>T (p.Arg56Trp)	HINT3, LOC129997111 (R56W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463303	NM_138571.5(HINT3):c.164G>A (p.Gly55Glu)	HINT3, LOC129997111 (G55E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407319	NM_138571.5(HINT3):c.171G>T (p.Gln57His)	HINT3, LOC129997111 (Q57H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348260	NM_138571.5(HINT3):c.344A>G (p.Lys115Arg)	HINT3 (K115R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341178	NM_138571.5(HINT3):c.376T>A (p.Phe126Ile)	HINT3 (F126I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313276	NM_138571.5(HINT3):c.238G>T (p.Ala80Ser)	HINT3 (A80S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291592	NM_138571.5(HINT3):c.497A>G (p.Asn166Ser)	HINT3 (N166S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291520	NM_138571.5(HINT3):c.409C>G (p.Pro137Ala)	HINT3 (P137A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288119	NM_138571.5(HINT3):c.542G>T (p.Arg181Ile)	HINT3 (R181I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808088	GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1	ARHGAP18, C6orf58 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1527284	GRCh37/hg19 6q22.31-22.33(chr6:122839432-128801386)	C6orf58, CENPW +21 more	Copy number loss	not specified	GPathogenic
Select item 1340790	GRCh37/hg19 6q22.31-22.33(chr6:125037475-129494795)x1	C6orf58, CENPW +17 more	Copy number loss	not provided	GPathogenic
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 148855	GRCh38/hg38 6q22.31-22.33(chr6:125021773-127771834)x1	LOC129997100, LOC129997101 +61 more	Copy number loss	See cases	GUncertain significance
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	ASF1A, CENPW +147 more	Copy number gain	See cases	GPathogenic
Select item 148091	GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1	TRE-CTC1-7, TRMT11 +75 more	Copy number loss	See cases	GUncertain significance
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 31