ClinVar for Gene (Select 170506) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3082262	NM_020865.3(DHX36):c.991A>G (p.Ile331Val)	DHX36 (I331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082261	NM_020865.3(DHX36):c.50G>A (p.Ser17Asn)	DHX36 (S17N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082260	NM_020865.3(DHX36):c.3002G>A (p.Arg1001Gln)	DHX36 (R1001Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082259	NM_020865.3(DHX36):c.2986A>G (p.Arg996Gly)	DHX36 (R996G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082258	NM_020865.3(DHX36):c.2329G>A (p.Glu777Lys)	DHX36 (E777K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082257	NM_020865.3(DHX36):c.211G>A (p.Gly71Arg)	DHX36 (G71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082256	NM_020865.3(DHX36):c.1976T>C (p.Met659Thr)	DHX36 (M659T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082255	NM_020865.3(DHX36):c.1483C>G (p.Leu495Val)	DHX36 (L495V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082254	NM_020865.3(DHX36):c.1376T>C (p.Val459Ala)	DHX36 (V459A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082253	NM_020865.3(DHX36):c.1367C>T (p.Ala456Val)	DHX36 (A456V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2654244	NM_020865.3(DHX36):c.75G>A (p.Gly25=)	DHX36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624118	NM_020865.3(DHX36):c.1604A>T (p.Gln535Leu)	DHX36 (Q521L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619641	NM_020865.3(DHX36):c.1487C>T (p.Pro496Leu)	DHX36 (P496L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615086	NM_020865.3(DHX36):c.1750A>G (p.Ser584Gly)	DHX36 (S584G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610139	NM_020865.3(DHX36):c.1439G>A (p.Arg480Gln)	DHX36 (R480Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568915	NM_020865.3(DHX36):c.2908A>G (p.Asn970Asp)	DHX36 (N956D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530846	NM_020865.3(DHX36):c.1141T>C (p.Cys381Arg)	DHX36 (C381R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524916	NM_020865.3(DHX36):c.1447G>A (p.Val483Ile)	DHX36 (V483I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521469	NM_020865.3(DHX36):c.2503A>G (p.Ile835Val)	DHX36 (I821V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517833	NM_020865.3(DHX36):c.1877A>G (p.Tyr626Cys)	DHX36 (Y612C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496313	NM_020865.3(DHX36):c.700T>A (p.Cys234Ser)	DHX36 (C234S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495820	NM_020865.3(DHX36):c.3020A>G (p.Tyr1007Cys)	DHX36 (Y993C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491431	NM_020865.3(DHX36):c.2726G>C (p.Cys909Ser)	DHX36 (C909S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480899	NM_020865.3(DHX36):c.2882T>C (p.Ile961Thr)	DHX36 (I947T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476118	NM_020865.3(DHX36):c.2317G>C (p.Gly773Arg)	DHX36 (G759R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474077	NM_020865.3(DHX36):c.814G>A (p.Val272Ile)	DHX36 (V272I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410779	NM_020865.3(DHX36):c.137G>T (p.Gly46Val)	DHX36 (G46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404914	NM_020865.3(DHX36):c.2227G>T (p.Ala743Ser)	DHX36 (A729S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390782	NM_020865.3(DHX36):c.2749A>T (p.Ile917Phe)	DHX36 (I903F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376290	NM_020865.3(DHX36):c.2651A>G (p.Asn884Ser)	DHX36 (N870S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355282	NM_020865.3(DHX36):c.1285A>G (p.Arg429Gly)	DHX36 (R429G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349468	NM_020865.3(DHX36):c.1393A>G (p.Met465Val)	DHX36 (M465V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334241	NM_020865.3(DHX36):c.2314C>T (p.Arg772Cys)	DHX36 (R772C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286281	NM_020865.3(DHX36):c.814G>C (p.Val272Leu)	DHX36 (V272L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277661	NM_020865.3(DHX36):c.1588A>G (p.Thr530Ala)	DHX36 (T530A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273054	NM_020865.3(DHX36):c.2278G>A (p.Val760Met)	DHX36 (V760M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227360	NM_020865.3(DHX36):c.277G>A (p.Glu93Lys)	DHX36 (E93K)	Single nucleotide variant (missense variant)	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 1527045	GRCh37/hg19 3q25.1-25.2(chr3:151147204-154845718)	AADAC, AADACL2 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	AADAC, AADACL2 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
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
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic
Select item 153419	GRCh38/hg38 3q25.1-25.2(chr3:151429416-155118646)x1	AADAC, AADACL2 +61 more	Copy number loss	See cases	GLikely pathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 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 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 53