17939[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 154639	GRCh38/hg38 1p36.31-36.23(chr1:6763143-8367573)x1	CAMTA1, CAMTA1-AS1 +63 more	Copy number loss	See cases	GUncertain significance
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 3038590	NM_001080397.3(SLC45A1):c.-81C>T	LOC129929288, SLC45A1	Single nucleotide variant (5 prime UTR variant)	SLC45A1-related disorder	GLikely benign
Select item 727086	NM_001080397.3(SLC45A1):c.-43C>G	LOC129929288, SLC45A1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign/Likely benign
Select item 3051263	NM_001080397.3(SLC45A1):c.9C>T (p.Pro3=)	SLC45A1	Single nucleotide variant (synonymous variant +1 more)	SLC45A1-related disorder	GLikely benign
Select item 2332084	NM_001080397.3(SLC45A1):c.26C>T (p.Pro9Leu)	SLC45A1 (P9L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2634463	NM_001080397.3(SLC45A1):c.52G>A (p.Val18Met)	SLC45A1 (V18M)	Single nucleotide variant (missense variant +1 more)	SLC45A1-related disorder	GUncertain significance
Select item 2342682	NM_001080397.3(SLC45A1):c.86C>T (p.Thr29Met)	SLC45A1 (T29M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1029016	NM_001080397.3(SLC45A1):c.110G>T (p.Arg37Leu)	SLC45A1 (R37L)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 1700243	NM_001080397.3(SLC45A1):c.114C>A (p.His38Gln)	SLC45A1 (H38Q)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 3164866	NM_001080397.3(SLC45A1):c.124C>T (p.Arg42Trp)	SLC45A1 (R42W)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with neuropsychiatric features +1 more	GUncertain significance
Select item 2311127	NM_001080397.3(SLC45A1):c.140A>C (p.Lys47Thr)	SLC45A1 (K47T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242175	NM_001080397.3(SLC45A1):c.170G>A (p.Arg57His)	SLC45A1 (R57H)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 3058106	NM_001080397.3(SLC45A1):c.177C>T (p.Ser59=)	SLC45A1	Single nucleotide variant (synonymous variant +1 more)	SLC45A1-related disorder	GLikely benign
Select item 2638146	NM_001080397.3(SLC45A1):c.180A>C (p.Pro60=)	SLC45A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3037428	NM_001080397.3(SLC45A1):c.186G>C (p.Pro62=)	SLC45A1	Single nucleotide variant (synonymous variant +1 more)	SLC45A1-related disorder	GLikely benign
Select item 2638147	NM_001080397.3(SLC45A1):c.201G>C (p.Pro67=)	SLC45A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638148	NM_001080397.3(SLC45A1):c.249C>T (p.Ser83=)	SLC45A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3164873	NM_001080397.3(SLC45A1):c.271G>A (p.Gly91Ser)	SLC45A1 (G91S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 750322	NM_001080397.3(SLC45A1):c.276C>T (p.Cys92=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2483001	NM_001080397.3(SLC45A1):c.347G>T (p.Gly116Val)	SLC45A1 (G116V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364976	NM_001080397.3(SLC45A1):c.355G>A (p.Asp119Asn)	SLC45A1 (D119N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475247	NM_001080397.3(SLC45A1):c.373G>A (p.Val125Met)	SLC45A1 (V125M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319866	NM_001080397.3(SLC45A1):c.391A>G (p.Ile131Val)	SLC45A1 (I131V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638149	NM_001080397.3(SLC45A1):c.393C>T (p.Ile131=)	SLC45A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2597089	NM_001080397.3(SLC45A1):c.437G>A (p.Arg146Gln)	SLC45A1 (R146Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570712	NM_001080397.3(SLC45A1):c.495A>G (p.Ala165=)	SLC45A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 428599	NM_001080397.3(SLC45A1):c.526C>T (p.Arg176Trp)	SLC45A1 (R145W)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 3164874	NM_001080397.3(SLC45A1):c.536G>T (p.Gly179Val)	SLC45A1 (G148V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164875	NM_001080397.3(SLC45A1):c.541G>T (p.Ala181Ser)	SLC45A1 (A150S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520239	NM_001080397.3(SLC45A1):c.589G>A (p.Val197Met)	SLC45A1 (V166M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 729656	NM_001080397.3(SLC45A1):c.600G>A (p.Val200=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 695569	NM_001080397.3(SLC45A1):c.612C>T (p.Asp204=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3045011	NM_001080397.3(SLC45A1):c.619G>A (p.Ala207Thr)	SLC45A1 (A176T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350803	NM_001080397.3(SLC45A1):c.619G>C (p.Ala207Pro)	SLC45A1 (A176P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350804	NM_001080397.3(SLC45A1):c.620C>T (p.Ala207Val)	SLC45A1 (A207V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591983	NM_001080397.3(SLC45A1):c.626C>T (p.Ser209Leu)	SLC45A1 (S7L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 428598	NM_001080397.3(SLC45A1):c.629C>T (p.Ala210Val)	SLC45A1 (A179V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with neuropsychiatric features	GLikely pathogenic
Select item 695570	NM_001080397.3(SLC45A1):c.630G>A (p.Ala210=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3164876	NM_001080397.3(SLC45A1):c.646G>A (p.Ala216Thr)	SLC45A1 (A185T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744301	NM_001080397.3(SLC45A1):c.660C>T (p.Asp220=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3164877	NM_001080397.3(SLC45A1):c.673G>A (p.Ala225Thr)	SLC45A1 (A194T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164878	NM_001080397.3(SLC45A1):c.721G>A (p.Gly241Arg)	SLC45A1 (G241R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1298402	NM_001080397.3(SLC45A1):c.738C>T (p.Tyr246=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3164880	NM_001080397.3(SLC45A1):c.739G>A (p.Val247Met)	SLC45A1 (V216M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044154	NM_001080397.3(SLC45A1):c.741G>A (p.Val247=)	SLC45A1	Single nucleotide variant (synonymous variant)	SLC45A1-related disorder	GLikely benign
Select item 1029021	NM_001080397.3(SLC45A1):c.742G>C (p.Val248Leu)	SLC45A1 (V46L +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 723376	NM_001080397.3(SLC45A1):c.744C>T (p.Val248=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752713	NM_001080397.3(SLC45A1):c.768G>A (p.Thr256=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2523851	NM_001080397.3(SLC45A1):c.800G>A (p.Arg267Gln)	SLC45A1 (R65Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1033649	NM_001080397.3(SLC45A1):c.814T>C (p.Phe272Leu)	SLC45A1 (F272L +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with neuropsychiatric features +1 more	GUncertain significance
Select item 2253825	NM_001080397.3(SLC45A1):c.821C>T (p.Ala274Val)	SLC45A1 (A274V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1333146	NM_001080397.3(SLC45A1):c.831G>C (p.Leu277=)	SLC45A1	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder with neuropsychiatric features +1 more	GBenign
Select item 2570713	NM_001080397.3(SLC45A1):c.834C>T (p.Ser278=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2603088	NM_001080397.3(SLC45A1):c.835G>A (p.Val279Ile)	SLC45A1 (V248I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164881	NM_001080397.3(SLC45A1):c.844G>C (p.Val282Leu)	SLC45A1 (V251L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472561	NM_001080397.3(SLC45A1):c.857T>C (p.Val286Ala)	SLC45A1 (V286A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319865	NM_001080397.3(SLC45A1):c.881G>A (p.Arg294Gln)	SLC45A1 (R92Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733771	NM_001080397.3(SLC45A1):c.882G>A (p.Arg294=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035791	NM_001080397.3(SLC45A1):c.906C>T (p.Ala302=)	SLC45A1	Single nucleotide variant (synonymous variant)	SLC45A1-related disorder	GLikely benign
Select item 3164882	NM_001080397.3(SLC45A1):c.926C>T (p.Pro309Leu)	SLC45A1 (P309L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 757336	NM_001080397.3(SLC45A1):c.927G>T (p.Pro309=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1033650	NM_001080397.3(SLC45A1):c.935C>T (p.Pro312Leu)	SLC45A1 (P110L +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with neuropsychiatric features +1 more	GUncertain significance
Select item 3044457	NM_001080397.3(SLC45A1):c.936G>A (p.Pro312=)	SLC45A1	Single nucleotide variant (synonymous variant)	SLC45A1-related disorder	GLikely benign
Select item 1029022	NM_001080397.3(SLC45A1):c.938C>G (p.Ser313Cys)	SLC45A1 (S282C +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 1302025	NM_001080397.3(SLC45A1):c.942A>G (p.Pro314=)	SLC45A1	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder with neuropsychiatric features +1 more	GBenign
Select item 3319864	NM_001080397.3(SLC45A1):c.970G>A (p.Asp324Asn)	SLC45A1 (D122N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349638	NM_001080397.3(SLC45A1):c.974G>A (p.Ser325Asn)	SLC45A1 (S294N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341805	NM_001080397.3(SLC45A1):c.981G>A (p.Pro327=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2260913	NM_001080397.3(SLC45A1):c.983C>T (p.Ser328Leu)	SLC45A1 (S297L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636887	NM_001080397.3(SLC45A1):c.1019C>T (p.Pro340Leu)	SLC45A1 (P138L +2 more)	Single nucleotide variant (missense variant)	SLC45A1-related disorder	GUncertain significance
Select item 3250827	NM_001080397.3(SLC45A1):c.1110G>A (p.Thr370=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638150	NM_001080397.3(SLC45A1):c.1125C>T (p.Ser375=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2309990	NM_001080397.3(SLC45A1):c.1147G>A (p.Gly383Ser)	SLC45A1 (G352S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476731	NM_001080397.3(SLC45A1):c.1150G>A (p.Gly384Ser)	SLC45A1 (G182S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 451752	NM_001080397.3(SLC45A1):c.1150G>T (p.Gly384Cys)	SLC45A1 (G418C +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 983315	NM_001080397.3(SLC45A1):c.1178G>A (p.Gly393Asp)	SLC45A1 (G191D +2 more)	Single nucleotide variant (missense variant)	Seizure +1 more	GUncertain significance
Select item 3164865	NM_001080397.3(SLC45A1):c.1204G>A (p.Val402Ile)	SLC45A1 (V200I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249137	NM_001080397.3(SLC45A1):c.1212C>A (p.Phe404Leu)	SLC45A1 (F202L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1013223	NM_001080397.3(SLC45A1):c.1227C>T (p.Asp409=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2371510	NM_001080397.3(SLC45A1):c.1238G>A (p.Arg413His)	SLC45A1 (R382H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3236658	NM_001080397.3(SLC45A1):c.1256T>C (p.Leu419Pro)	SLC45A1 (L217P +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 1029017	NM_001080397.3(SLC45A1):c.1256T>A (p.Leu419Gln)	SLC45A1 (L217Q +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 1013224	NM_001080397.3(SLC45A1):c.1284C>T (p.Ser428=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2585663	NM_001080397.3(SLC45A1):c.1335G>A (p.Pro445=)	SLC45A1	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder with neuropsychiatric features	GBenign

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