24902[HGNC] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 144590	GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3	ACTBL2, DEPDC1B +105 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 560134	Single allele	PART1, LOC129993943 +6 more	Deletion	Acrodysostosis 2 with or without hormone resistance	GUncertain significance
Select item 144267	GRCh38/hg38 5q12.1-12.3(chr5:60499077-63927783)x1	DEPDC1B, DIMT1 +49 more	Copy number loss	See cases	GPathogenic
Select item 2263666	NM_018369.3(DEPDC1B):c.1556A>T (p.Gln519Leu)	DEPDC1B (Q457L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355058	NM_018369.3(DEPDC1B):c.1463G>A (p.Arg488Gln)	DEPDC1B (R426Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619340	NM_018369.3(DEPDC1B):c.1337A>G (p.Tyr446Cys)	DEPDC1B (Y446C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459114	NM_018369.3(DEPDC1B):c.1298G>A (p.Arg433His)	DEPDC1B (R433H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380277	NM_018369.3(DEPDC1B):c.1297C>T (p.Arg433Cys)	DEPDC1B (R433C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370369	NM_018369.3(DEPDC1B):c.1270A>G (p.Ile424Val)	DEPDC1B (I424V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081729	NM_018369.3(DEPDC1B):c.1217G>A (p.Arg406His)	DEPDC1B (R406H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081728	NM_018369.3(DEPDC1B):c.1202C>A (p.Thr401Asn)	DEPDC1B (T401N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607357	NM_018369.3(DEPDC1B):c.1111G>A (p.Val371Met)	DEPDC1B (V371M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362529	NM_018369.3(DEPDC1B):c.1085G>A (p.Arg362His)	DEPDC1B (R362H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290150	NM_018369.3(DEPDC1B):c.1058G>A (p.Arg353Gln)	DEPDC1B (R353Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314798	NM_018369.3(DEPDC1B):c.971G>A (p.Arg324Lys)	DEPDC1B (R324K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616253	NM_018369.3(DEPDC1B):c.922G>T (p.Ala308Ser)	DEPDC1B (A308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 144745	GRCh38/hg38 5q12.1(chr5:60609368-60885007)x1	DEPDC1B, ELOVL7 +7 more	Copy number loss	See cases	GUncertain significance
Select item 2515243	NM_018369.3(DEPDC1B):c.788T>C (p.Met263Thr)	DEPDC1B (M263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081736	NM_018369.3(DEPDC1B):c.764A>G (p.Asn255Ser)	DEPDC1B (N255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466206	NM_018369.3(DEPDC1B):c.701A>G (p.Asp234Gly)	DEPDC1B (D234G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460121	NM_018369.3(DEPDC1B):c.700G>A (p.Asp234Asn)	DEPDC1B (D234N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296295	NM_018369.3(DEPDC1B):c.656A>G (p.His219Arg)	DEPDC1B (H219R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 760249	NM_018369.3(DEPDC1B):c.597C>T (p.Gly199=)	DEPDC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3271629	NM_018369.3(DEPDC1B):c.588A>T (p.Lys196Asn)	DEPDC1B (K196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348659	NM_018369.3(DEPDC1B):c.550G>C (p.Glu184Gln)	DEPDC1B (E184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570148	NM_018369.3(DEPDC1B):c.521G>A (p.Arg174His)	DEPDC1B (R174H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592403	NM_018369.3(DEPDC1B):c.520C>T (p.Arg174Cys)	DEPDC1B (R174C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554240	NM_018369.3(DEPDC1B):c.507C>G (p.Cys169Trp)	DEPDC1B (C169W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365879	NM_018369.3(DEPDC1B):c.487A>G (p.Ile163Val)	DEPDC1B (I163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459253	NM_018369.3(DEPDC1B):c.473G>A (p.Arg158His)	DEPDC1B (R158H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560194	NM_018369.3(DEPDC1B):c.404C>T (p.Pro135Leu)	DEPDC1B (P135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389587	NM_018369.3(DEPDC1B):c.394A>C (p.Asn132His)	DEPDC1B (N132H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271626	NM_018369.3(DEPDC1B):c.334C>A (p.Leu112Met)	DEPDC1B (L112M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271628	NM_018369.3(DEPDC1B):c.302G>A (p.Arg101His)	DEPDC1B (R101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081732	NM_018369.3(DEPDC1B):c.277G>A (p.Gly93Ser)	DEPDC1B (G93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081731	NM_018369.3(DEPDC1B):c.248A>C (p.His83Pro)	DEPDC1B (H83P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081730	NM_018369.3(DEPDC1B):c.199G>A (p.Val67Met)	DEPDC1B (V67M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242354	NM_018369.3(DEPDC1B):c.190G>A (p.Gly64Ser)	DEPDC1B (G64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215672	NM_018369.3(DEPDC1B):c.164A>C (p.Glu55Ala)	DEPDC1B (E55A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081738	NM_018369.3(DEPDC1B):c.92G>A (p.Arg31Gln)	DEPDC1B (R31Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271627	NM_018369.3(DEPDC1B):c.86C>A (p.Pro29Gln)	DEPDC1B (P29Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081737	NM_018369.3(DEPDC1B):c.82A>G (p.Met28Val)	DEPDC1B (M28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081734	NM_018369.3(DEPDC1B):c.67C>G (p.Leu23Val)	DEPDC1B (L23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551651	NM_018369.3(DEPDC1B):c.45G>C (p.Arg15Ser)	DEPDC1B (R15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255419	NM_018369.3(DEPDC1B):c.7C>T (p.His3Tyr)	DEPDC1B (H3Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672303	Single allele	DEPDC1B, ELOVL7 +1 more	Deletion	Cockayne syndrome type 1	GPathogenic
Select item 1808186	GRCh37/hg19 5q12.1(chr5:59697880-60026236)x3	DEPDC1B, PART1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1706518	GRCh37/hg19 5q12.1-12.3(chr5:59783655-63257950)x1	ZSWIM6, C5orf64 +12 more	Copy number loss	See cases	GPathogenic
Select item 1527165	GRCh37/hg19 5q12.1(chr5:59929560-61133024)	C5orf64, DEPDC1B +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527164	GRCh37/hg19 5q12.1(chr5:59698068-60053255)	DEPDC1B, ELOVL7 +2 more	Copy number gain	not specified	GUncertain significance
Select item 687723	GRCh37/hg19 5q12.1(chr5:59842939-60331361)x1	DEPDC1B, ELOVL7 +3 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442491	GRCh37/hg19 5q12.1-12.3(chr5:59753805-63274635)x1	DEPDC1B, DIMT1 +12 more	Copy number loss	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, CCDC125 +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 61