IYD[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC132089359, LOC132089360 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	ADGB, ADGB-DT +172 more	Copy number loss	See cases	GPathogenic
Select item 146082	GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)x1	GINM1, IYD +131 more	Copy number loss	See cases	GPathogenic
Select item 355671	NM_203395.2(IYD):c.-104T>A	IYD	Single nucleotide variant	Congenital hypothyroidism	GUncertain significance
Select item 2594932	NM_203395.3(IYD):c.32T>C (p.Ile11Thr)	IYD (I11T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 751079	NM_203395.3(IYD):c.60T>C (p.Phe20=)	IYD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 709827	NM_203395.3(IYD):c.69C>G (p.Ala23=)	IYD	Single nucleotide variant (synonymous variant +2 more)	IYD-related condition +1 more	GLikely benign
Select item 718813	NM_203395.3(IYD):c.90G>A (p.Lys30=)	IYD	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 2243865	NM_203395.3(IYD):c.115G>A (p.Glu39Lys)	IYD (E39K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2656994	NM_203395.3(IYD):c.123C>G (p.Arg41=)	IYD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	LOC115308161, LOC116183076 +288 more	Copy number loss	See cases	GPathogenic
Select item 1286156	NM_203395.3(IYD):c.179-41G>A	IYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 716756	NM_203395.3(IYD):c.181G>A (p.Ala61Thr)	IYD (A61T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2313322	NM_203395.3(IYD):c.207A>C (p.Glu69Asp)	IYD (K10T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 727401	NM_203395.3(IYD):c.210T>C (p.Asn70=)	IYD (M11T)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 709057	NM_203395.3(IYD):c.239A>C (p.His80Pro)	IYD (H80P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2212253	NM_203395.3(IYD):c.248A>T (p.Glu83Val)	IYD (E83V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2378965	NM_203395.3(IYD):c.268T>C (p.Ser90Pro)	IYD (S90P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 799120	NM_203395.3(IYD):c.286C>T (p.Leu96Phe)	IYD (L96F)	Single nucleotide variant (missense variant +2 more)	IYD-related condition +1 more	GLikely benign
Select item 737	NM_203395.3(IYD):c.301C>T (p.Arg101Trp)	IYD (R101W)	Single nucleotide variant (missense variant +2 more)	IYD-related condition +1 more	GLikely pathogenic
Select item 738	NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu)	IYD	Deletion (inframe_indel +2 more)	IYD-related condition +2 more	GConflicting classifications of pathogenicity
Select item 355674	NM_203395.3(IYD):c.323A>G (p.Asn108Ser)	IYD (N108S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 795054	NM_203395.3(IYD):c.327G>A (p.Glu109=)	IYD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1058226	NM_203395.3(IYD):c.337A>G (p.Met113Val)	IYD (M113V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2373542	NM_203395.3(IYD):c.340G>C (p.Glu114Gln)	IYD (E114Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 739	NM_203395.3(IYD):c.347T>C (p.Ile116Thr)	IYD (I116T)	Single nucleotide variant (missense variant +2 more)	Iodotyrosine deiodination defect	GPathogenic
Select item 2340264	NM_203395.3(IYD):c.349G>A (p.Asp117Asn)	IYD (D117N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2403686	NM_203395.3(IYD):c.365C>T (p.Thr122Met)	IYD (T122M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3063663	NM_203395.3(IYD):c.371-13G>T	IYD	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 774868	NM_203395.3(IYD):c.381G>A (p.Pro127=)	IYD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2326887	NM_203395.3(IYD):c.383G>A (p.Ser128Asn)	IYD (S46N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525943	NM_203395.3(IYD):c.401C>T (p.Pro134Leu)	IYD (P134L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382456	NM_203395.3(IYD):c.428C>A (p.Pro143Gln)	IYD (P61Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1270009	NM_203395.3(IYD):c.530+129C>T	IYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250196	NM_203395.3(IYD):c.530+142C>T	IYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 745865	NM_203395.3(IYD):c.537C>A (p.Asn179Lys)	IYD (N97K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2297930	NM_203395.3(IYD):c.566C>T (p.Pro189Leu)	IYD (P189L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610001	NM_203395.3(IYD):c.581T>C (p.Ile194Thr)	IYD (I194T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 435539	NM_203395.3(IYD):c.604G>A (p.Ala202Thr)	IYD (A202T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2461904	NM_203395.3(IYD):c.607G>A (p.Ala203Thr)	IYD (A121T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245962	NM_203395.3(IYD):c.614G>C (p.Gly205Ala)	IYD (G123A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239895	NM_203395.3(IYD):c.624del (p.Val209fs)	IYD (V127fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2656995	NM_203395.3(IYD):c.657C>T (p.Ile219=)	IYD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 740	NM_203395.3(IYD):c.658G>A (p.Ala220Thr)	IYD (A220T +1 more)	Single nucleotide variant (missense variant +1 more)	Iodotyrosine deiodination defect	GLikely pathogenic
Select item 1295382	NM_203395.3(IYD):c.687+77G>A	IYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236562	NM_203395.3(IYD):c.687+226T>C	IYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181976	NM_203395.3(IYD):c.687+275C>A	IYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295337	NM_203395.3(IYD):c.687+883G>A	IYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249675	NM_203395.3(IYD):c.687+1048A>C	IYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183576	NM_203395.3(IYD):c.687+1058G>A	IYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241674	NM_203395.3(IYD):c.687+1142T>A	IYD (F231I)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3042692	NM_203395.3(IYD):c.687+1260C>T	IYD (P250S)	Single nucleotide variant (non-coding transcript variant +2 more)	IYD-related condition	GLikely benign
Select item 3054595	NM_203395.3(IYD):c.687+1275G>A	IYD (E255K)	Single nucleotide variant (missense variant +2 more)	IYD-related condition	GLikely benign
Select item 2305243	NM_203395.3(IYD):c.687+1278G>A	IYD (A256T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3043698	NM_203395.3(IYD):c.687+1282G>A	IYD (C257Y)	Single nucleotide variant (missense variant +2 more)	IYD-related condition	GBenign
Select item 257584	NM_203395.3(IYD):c.687+1305T>C	IYD (C265R)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 1258887	NM_203395.3(IYD):c.687+1306G>A	IYD (C265Y)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1295330	NM_203395.3(IYD):c.687+1497G>T	IYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275711	NM_203395.3(IYD):c.688-254A>G	IYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 716354	NM_203395.3(IYD):c.737G>A (p.Arg246Gln)	IYD (R246Q +1 more)	Single nucleotide variant (synonymous variant +3 more)	IYD-related condition +1 more	GBenign
Select item 2360232	NM_203395.3(IYD):c.745G>A (p.Val249Met)	IYD (V249M +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 355678	NM_203395.3(IYD):c.762C>T (p.Pro254=)	IYD (R292C)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2204705	NM_203395.3(IYD):c.763G>A (p.Ala255Thr)	IYD (A255T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2257419	NM_203395.3(IYD):c.805A>T (p.Ser269Cys)	IYD (S269C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1295312	NM_203395.3(IYD):c.811G>A (p.Glu271Lys)	IYD (E271K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 712375	NM_203395.3(IYD):c.822G>A (p.Val274=)	IYD	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2577213	NM_203395.3(IYD):c.835C>T (p.Arg279Cys)	IYD (R197C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Iodotyrosine deiodination defect	GPathogenic
Select item 1266484	NM_203395.3(IYD):c.*7C>T	IYD	Single nucleotide variant (3 prime UTR variant +1 more)	IYD-related condition +1 more	GBenign
Select item 1228071	NM_203395.3(IYD):c.*31T>C	IYD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1273347	NM_203395.3(IYD):c.*41G>A	IYD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1229249	NM_203395.3(IYD):c.*240G>T	IYD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 355692	NM_203395.3(IYD):c.460_461del	IYD	Deletion (3 prime UTR variant +1 more)	Congenital hypothyroidism	GLikely benign
Select item 355691	NM_203395.3(IYD):c.*461del	IYD	Deletion (3 prime UTR variant +1 more)	Congenital hypothyroidism	GUncertain significance
Select item 355700	NM_203395.3(IYD):c.672_673delinsTG	IYD	Indel (3 prime UTR variant +1 more)	Congenital hypothyroidism	GUncertain significance
Select item 355712	NM_203395.3(IYD):c.*1382CT[3]	IYD	Microsatellite (3 prime UTR variant +1 more)	Congenital hypothyroidism	GUncertain significance
Select item 355753	NM_203395.3(IYD):c.*3405del	IYD	Deletion (3 prime UTR variant +1 more)	Congenital hypothyroidism	GUncertain significance
Select item 355766	NM_203395.3(IYD):c.4676_4677insGGGGGTGATTCACCT	IYD	Insertion (3 prime UTR variant +1 more)	Congenital hypothyroidism	GBenign
Select item 355782	NM_203395.3(IYD):c.*5785dup	IYD	Duplication (3 prime UTR variant +1 more)	Congenital hypothyroidism	GUncertain significance
Select item 355791	NM_203395.3(IYD):c.*6375del	IYD	Deletion (3 prime UTR variant +1 more)	Congenital hypothyroidism	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 814880	GRCh37/hg19 6q25.1(chr6:150665650-151126443)x3	IYD, PLEKHG1	Copy number gain	not provided	GUncertain significance
Select item 814879	GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1	AKAP12, ARMT1 +31 more	Copy number loss	not provided	GPathogenic
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
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 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 90