25021[HGNC] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC126806816, LOC126806817 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	ABTB1, ACAD11 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 2373613	NM_014065.4(ASTE1):c.1949A>G (p.His650Arg)	ASTE1, ATP2C1 (H675R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517230	NM_014065.4(ASTE1):c.1856T>C (p.Ile619Thr)	ASTE1, ATP2C1 (I644T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3130525	NM_014065.4(ASTE1):c.1816T>C (p.Tyr606His)	ASTE1, ATP2C1 (Y631H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1234464	NM_014065.4(ASTE1):c.1709+100dup	ASTE1, ATP2C1	Duplication (intron variant)	not provided	GBenign
Select item 3048711	NM_014065.4(ASTE1):c.1708C>T (p.Arg570Ter)	ASTE1, ATP2C1 (R570* +1 more)	Single nucleotide variant (missense variant +3 more)	ASTE1-related disorder	GLikely benign
Select item 2291555	NM_014065.4(ASTE1):c.1607T>C (p.Leu536Ser)	ASTE1, ATP2C1 (L536S)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2400763	NM_014065.4(ASTE1):c.1586G>A (p.Arg529Gln)	ASTE1, ATP2C1 (R529Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2608804	NM_014065.4(ASTE1):c.1577C>T (p.Ala526Val)	ASTE1, ATP2C1 (A526V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2265049	NM_014065.4(ASTE1):c.1540G>A (p.Ala514Thr)	ASTE1, ATP2C1 (A514T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2615831	NM_014065.4(ASTE1):c.1313G>A (p.Arg438Lys)	ASTE1 (R438K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209305	NM_014065.4(ASTE1):c.944A>G (p.Tyr315Cys)	ASTE1 (Y315C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529658	NM_014065.4(ASTE1):c.830T>G (p.Leu277Arg)	ASTE1 (L277R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486819	NM_014065.4(ASTE1):c.804C>G (p.Asn268Lys)	ASTE1 (N268K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488374	NM_014065.4(ASTE1):c.764G>A (p.Arg255Gln)	ASTE1 (R255Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130527	NM_014065.4(ASTE1):c.724C>A (p.Pro242Thr)	ASTE1 (P242T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239215	NM_014065.4(ASTE1):c.716C>T (p.Ala239Val)	ASTE1 (A239V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2496300	NM_014065.4(ASTE1):c.709A>G (p.Ser237Gly)	ASTE1 (S237G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267130	NM_014065.4(ASTE1):c.708A>C (p.Leu236Phe)	ASTE1 (L236F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247658	NM_014065.4(ASTE1):c.664T>C (p.Cys222Arg)	ASTE1 (C222R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1330935	NM_014065.4(ASTE1):c.656C>T (p.Ala219Val)	ASTE1 (A219V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2260931	NM_014065.4(ASTE1):c.427C>T (p.Arg143Trp)	ASTE1 (R143W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130526	NM_014065.4(ASTE1):c.392G>A (p.Arg131Gln)	ASTE1 (R131Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2391359	NM_014065.4(ASTE1):c.332G>A (p.Ser111Asn)	ASTE1 (S111N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550786	NM_014065.4(ASTE1):c.296A>T (p.Lys99Met)	ASTE1 (K99M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377929	NM_014065.4(ASTE1):c.143G>A (p.Arg48Gln)	ASTE1 (R48Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600853	NM_014065.4(ASTE1):c.139C>A (p.Leu47Ile)	ASTE1 (L47I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388020	NM_014065.4(ASTE1):c.136G>T (p.Asp46Tyr)	ASTE1 (D46Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130528	NM_014065.4(ASTE1):c.77C>T (p.Thr26Ile)	ASTE1 (T26I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ISY1-RAB43, ITGB5 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 685729	GRCh37/hg19 3q22.1(chr3:130634946-130768428)x3	ASTE1, ATP2C1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic

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Items: 41