ClinVar for Gene (Select 389434) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355508	NM_203395.3(IYD):c.178+9A>G	IYD	Single nucleotide variant (intron variant)	IYD-related disorder	GLikely benign
Select item 3287088	NM_203395.3(IYD):c.403T>C (p.Trp135Arg)	IYD (W135R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287087	NM_203395.3(IYD):c.700G>C (p.Val234Leu)	IYD (G271A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3112054	NM_203395.3(IYD):c.85A>G (p.Lys29Glu)	IYD (K29E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3112053	NM_203395.3(IYD):c.596A>G (p.His199Arg)	IYD (H199R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112052	NM_203395.3(IYD):c.430G>A (p.Asp144Asn)	IYD (D62N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112051	NM_203395.3(IYD):c.355G>A (p.Val119Ile)	IYD (V119I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3112049	NM_203395.3(IYD):c.29C>T (p.Ala10Val)	IYD (A10V)	Single nucleotide variant (missense variant +2 more)	not specified	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 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3054595	NM_203395.3(IYD):c.687+1275G>A	IYD (E255K)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3043698	NM_203395.3(IYD):c.687+1282G>A	IYD (C257Y)	Single nucleotide variant (missense variant +2 more)	IYD-related disorder	GBenign
Select item 3042692	NM_203395.3(IYD):c.687+1260C>T	IYD (P250S)	Single nucleotide variant (missense variant +2 more)	IYD-related disorder	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 2656995	NM_203395.3(IYD):c.657C>T (p.Ile219=)	IYD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2610001	NM_203395.3(IYD):c.581T>C (p.Ile194Thr)	IYD (I194T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594932	NM_203395.3(IYD):c.32T>C (p.Ile11Thr)	IYD (I11T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2525943	NM_203395.3(IYD):c.401C>T (p.Pro134Leu)	IYD (P134L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461904	NM_203395.3(IYD):c.607G>A (p.Ala203Thr)	IYD (A121T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403686	NM_203395.3(IYD):c.365C>T (p.Thr122Met)	IYD (T122M)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 2378965	NM_203395.3(IYD):c.268T>C (p.Ser90Pro)	IYD (S90P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2373542	NM_203395.3(IYD):c.340G>C (p.Glu114Gln)	IYD (E114Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2360232	NM_203395.3(IYD):c.745G>A (p.Val249Met)	IYD (V249M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2340264	NM_203395.3(IYD):c.349G>A (p.Asp117Asn)	IYD (D117N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2326887	NM_203395.3(IYD):c.383G>A (p.Ser128Asn)	IYD (S46N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313322	NM_203395.3(IYD):c.207A>C (p.Glu69Asp)	IYD (K10T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305243	NM_203395.3(IYD):c.687+1278G>A	IYD (A256T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297930	NM_203395.3(IYD):c.566C>T (p.Pro189Leu)	IYD (P189L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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)	not specified	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)	not specified	GUncertain significance
Select item 2243865	NM_203395.3(IYD):c.115G>A (p.Glu39Lys)	IYD (E39K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239895	NM_203395.3(IYD):c.624del (p.Val209fs)	IYD (V127fs +1 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2212253	NM_203395.3(IYD):c.248A>T (p.Glu83Val)	IYD (E83V +1 more)	Single nucleotide variant (missense variant +2 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)	not specified	GLikely benign
Select item 1295382	NM_203395.3(IYD):c.687+77G>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 1295330	NM_203395.3(IYD):c.687+1497G>T	IYD	Single nucleotide variant (intron variant)	not provided	GBenign
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 1286156	NM_203395.3(IYD):c.179-41G>A	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 1273347	NM_203395.3(IYD):c.*41G>A	IYD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1270009	NM_203395.3(IYD):c.530+129C>T	IYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266484	NM_203395.3(IYD):c.*7C>T	IYD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 1250196	NM_203395.3(IYD):c.530+142C>T	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 1241674	NM_203395.3(IYD):c.687+1142T>A	IYD (F231I)	Single nucleotide variant (missense variant +2 more)	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 1229249	NM_203395.3(IYD):c.*240G>T	IYD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 1183576	NM_203395.3(IYD):c.687+1058G>A	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 1058226	NM_203395.3(IYD):c.337A>G (p.Met113Val)	IYD (M113V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
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 799120	NM_203395.3(IYD):c.286C>T (p.Leu96Phe)	IYD (L96F)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
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 774868	NM_203395.3(IYD):c.381G>A (p.Pro127=)	IYD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 745865	NM_203395.3(IYD):c.537C>A (p.Asn179Lys)	IYD (N97K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 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 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 716354	NM_203395.3(IYD):c.737G>A (p.Arg246Gln)	IYD (R246Q +1 more)	Single nucleotide variant (synonymous variant +3 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 709827	NM_203395.3(IYD):c.69C>G (p.Ala23=)	IYD	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 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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 435539	NM_203395.3(IYD):c.604G>A (p.Ala202Thr)	IYD (A202T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic
Select item 355791	NM_203395.3(IYD):c.*6375del	IYD	Deletion (3 prime UTR variant +1 more)	Congenital hypothyroidism +1 more	GUncertain significance
Select item 355782	NM_203395.3(IYD):c.*5785dup	IYD	Duplication (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 355753	NM_203395.3(IYD):c.*3405del	IYD	Deletion (3 prime UTR variant +1 more)	Congenital hypothyroidism +1 more	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 355700	NM_203395.3(IYD):c.672_673delinsTG	IYD	Indel (3 prime UTR variant +1 more)	Congenital hypothyroidism	GUncertain significance
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 355678	NM_203395.3(IYD):c.762C>T (p.Pro254=)	IYD (R292C)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
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 355671	NM_203395.2(IYD):c.-104T>A	IYD	Single nucleotide variant	Congenital hypothyroidism	GUncertain significance
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 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	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 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	LOC132089373, LOC132090771 +172 more	Copy number loss	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
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 739	NM_203395.3(IYD):c.347T>C (p.Ile116Thr)	IYD (I116T)	Single nucleotide variant (missense variant +2 more)	Iodotyrosine deiodination defect	GLikely pathogenic
Select item 738	NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu)	IYD	Deletion (inframe_indel +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 737	NM_203395.3(IYD):c.301C>T (p.Arg101Trp)	IYD (R101W)	Single nucleotide variant (missense variant +2 more)	IYD-related disorder +1 more	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 98