ClinVar for Gene (Select 6474) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3161871	NM_001163678.2(SHOX2):c.877G>T (p.Ala293Ser)	LOC129937819, SHOX2 (A293S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161870	NM_001163678.2(SHOX2):c.791T>C (p.Met264Thr)	SHOX2 (M264T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161869	NM_001163678.2(SHOX2):c.631G>A (p.Ala211Thr)	SHOX2 (A211T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161868	NM_001163678.2(SHOX2):c.289C>G (p.Leu97Val)	SHOX2 (L97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161867	NM_001163678.2(SHOX2):c.253G>C (p.Gly85Arg)	SHOX2 (G85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161866	NM_001163678.2(SHOX2):c.131C>G (p.Thr44Ser)	SHOX2 (T44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058527	NM_001163678.2(SHOX2):c.537G>T (p.Leu179=)	SHOX2	Single nucleotide variant (synonymous variant)	SHOX2-related condition	GLikely benign
Select item 3049641	NM_001163678.2(SHOX2):c.63G>A (p.Glu21=)	SHOX2	Single nucleotide variant (synonymous variant)	SHOX2-related condition	GLikely benign
Select item 3047990	NM_001163678.2(SHOX2):c.174G>A (p.Ala58=)	LOC129937820, SHOX2	Single nucleotide variant (synonymous variant)	SHOX2-related condition	GLikely benign
Select item 3046370	NM_001163678.2(SHOX2):c.306C>G (p.Ala102=)	SHOX2	Single nucleotide variant (synonymous variant)	SHOX2-related condition	GLikely benign
Select item 3045746	NM_001163678.2(SHOX2):c.556-6C>G	SHOX2	Single nucleotide variant (intron variant)	SHOX2-related condition	GLikely benign
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2654254	NM_001163678.2(SHOX2):c.852C>G (p.Ala284=)	LOC129937819, SHOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616833	NM_001163678.2(SHOX2):c.355G>A (p.Glu119Lys)	SHOX2 (E143K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611901	NM_001163678.2(SHOX2):c.115G>C (p.Glu39Gln)	SHOX2 (E39Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606545	NM_001163678.2(SHOX2):c.760C>A (p.Pro254Thr)	SHOX2 (P254T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552539	NM_001163678.2(SHOX2):c.169C>G (p.Arg57Gly)	LOC129937820, SHOX2 (R57G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537474	NM_001163678.2(SHOX2):c.766C>G (p.Leu256Val)	SHOX2 (L292V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535471	NM_001163678.2(SHOX2):c.839A>G (p.Asp280Gly)	LOC129937819, SHOX2 (D280G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534557	NM_001163678.2(SHOX2):c.136G>C (p.Ala46Pro)	SHOX2 (A46P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534556	NM_001163678.2(SHOX2):c.130A>G (p.Thr44Ala)	SHOX2 (T44A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534555	NM_001163678.2(SHOX2):c.128G>A (p.Cys43Tyr)	SHOX2 (C43Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519852	NM_001163678.2(SHOX2):c.556G>A (p.Val186Ile)	SHOX2 (V186I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468084	NM_001163678.2(SHOX2):c.857C>G (p.Ser286Trp)	LOC129937819, SHOX2 (S286W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466545	NM_001163678.2(SHOX2):c.311G>C (p.Arg104Thr)	SHOX2 (R104T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408988	NM_001163678.2(SHOX2):c.346+610T>G	SHOX2 (F136C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381915	NM_001163678.2(SHOX2):c.256G>A (p.Gly86Arg)	SHOX2 (G86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340107	NM_001163678.2(SHOX2):c.622A>C (p.Ile208Leu)	SHOX2 (I232L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298080	NM_001163678.2(SHOX2):c.776A>G (p.His259Arg)	SHOX2 (H259R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278632	NM_001163678.2(SHOX2):c.757C>T (p.His253Tyr)	SHOX2 (H253Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273901	NM_001163678.2(SHOX2):c.245G>A (p.Gly82Glu)	SHOX2 (G82E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245146	NM_001163678.2(SHOX2):c.14C>A (p.Thr5Lys)	SHOX2 (T5K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227455	NM_001163678.2(SHOX2):c.278C>T (p.Pro93Leu)	SHOX2 (P93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221382	NM_001163678.2(SHOX2):c.343G>A (p.Glu115Lys)	SHOX2 (E115K)	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 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1527049	GRCh37/hg19 3q25.31-25.33(chr3:156768935-160158553)	C3orf80, CCNL1 +16 more	Copy number gain	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 980543	GRCh37/hg19 3q25.32(chr3:157666169-158146714)x3	SHOX2, RSRC1	Copy number gain	not provided	GUncertain significance
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 929324	GRCh37/hg19 3q25.31-25.33(chr3:156812581-160154747)x3	C3orf80, CCNL1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 872139	NM_001163678.2(SHOX2):c.304G>A (p.Ala102Thr)	SHOX2 (A102T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780108	NM_001163678.2(SHOX2):c.630C>T (p.Ala210=)	SHOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687064	GRCh37/hg19 3q25.32(chr3:157620773-158351532)x1	MLF1, RSRC1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 686474	GRCh37/hg19 3q25.32(chr3:157542717-158388665)x3	GFM1, LXN +3 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 282228	NM_001163678.2(SHOX2):c.295A>T (p.Met99Leu)	SHOX2 (M99L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic
Select item 195193	NM_001163678.2(SHOX2):c.346+590G>A	SHOX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 193247	NM_001163678.2(SHOX2):c.224_232dup (p.Gly75_Gly77dup)	SHOX2	Duplication (inframe_insertion)	not specified	GLikely benign
Select item 193246	NM_001163678.2(SHOX2):c.222C>T (p.Gly74=)	SHOX2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 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: 62