27934[HGNC] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 146815	GRCh38/hg38 2q21.3-22.2(chr2:136045480-142845159)x3	CXCR4, HNMT +46 more	Copy number gain	See cases	GPathogenic
Select item 148432	GRCh38/hg38 2q22.1-22.3(chr2:136937358-146681810)x1	ARHGAP15, ARHGAP15-AS1 +75 more	Copy number loss	See cases	GPathogenic
Select item 155647	GRCh38/hg38 2q22.1(chr2:137433939-138535492)x3	HNMT, LINC01832 +12 more	Copy number gain	See cases	GLikely benign
Select item 2262700	NM_001001664.3(SPOPL):c.252G>T (p.Leu84Phe)	SPOPL (L84F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569135	NM_001001664.3(SPOPL):c.262T>G (p.Leu88Val)	SPOPL (L88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169325	NM_001001664.3(SPOPL):c.298G>A (p.Ala100Thr)	SPOPL (A100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236555	NM_001001664.3(SPOPL):c.325G>C (p.Ala109Pro)	SPOPL (A109P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588457	NM_001001664.3(SPOPL):c.332G>A (p.Arg111Lys)	SPOPL (R111K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344838	NM_001001664.3(SPOPL):c.426G>T (p.Leu142Phe)	SPOPL (L142F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344839	NM_001001664.3(SPOPL):c.427C>T (p.Leu143Phe)	SPOPL (L143F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290664	NM_001001664.3(SPOPL):c.471A>C (p.Leu157Phe)	SPOPL (L157F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559116	NM_001001664.3(SPOPL):c.485G>A (p.Ser162Asn)	SPOPL (S162N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169326	NM_001001664.3(SPOPL):c.680C>T (p.Ala227Val)	SPOPL (A227V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331035	NM_001001664.3(SPOPL):c.682A>G (p.Met228Val)	SPOPL (M228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388618	NM_001001664.3(SPOPL):c.719G>A (p.Arg240Gln)	SPOPL (R240Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362502	NM_001001664.3(SPOPL):c.736T>G (p.Leu246Val)	SPOPL (L246V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3169327	NM_001001664.3(SPOPL):c.885T>G (p.Ser295Arg)	SPOPL (S295R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243129	NM_001001664.3(SPOPL):c.947A>T (p.Gln316Leu)	SPOPL (Q316L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169323	NM_001001664.3(SPOPL):c.1036C>A (p.Gln346Lys)	SPOPL (Q346K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538867	NM_001001664.3(SPOPL):c.1039G>A (p.Ala347Thr)	SPOPL (A347T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325410	NM_001001664.3(SPOPL):c.1042A>G (p.Thr348Ala)	SPOPL (T348A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2487059	NM_001001664.3(SPOPL):c.1091C>T (p.Pro364Leu)	SPOPL (P364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169324	NM_001001664.3(SPOPL):c.1136G>A (p.Cys379Tyr)	SPOPL (C379Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319832	NM_001001664.3(SPOPL):c.1162C>T (p.Arg388Trp)	SPOPL (R388W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322341	NM_001001664.3(SPOPL):c.1166T>C (p.Leu389Pro)	SPOPL (L389P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 2664508	GRCh37/hg19 2q22.1(chr2:138458639-141918297)x1	HNMT, LRP1B +2 more	Copy number loss	Syndromic craniosynostosis	GLikely pathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526903	GRCh37/hg19 2q22.1-22.3(chr2:138578298-144874187)	ARHGAP15, GTDC1 +5 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 1047890	GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)	ACVR2A, ARHGAP15 +28 more	Copy number gain	Global developmental delay +2 more	GPathogenic
Select item 974580	Single allele	ZEB2, HNMT +7 more	Deletion	Mowat-Wilson syndrome	GPathogenic
Select item 562534	GRCh37/hg19 2q22.1(chr2:139096959-139273973)x1	SPOPL	Copy number loss	not provided	GUncertain significance
Select item 562517	GRCh37/hg19 2q22.1(chr2:139261688-139377923)x1	SPOPL	Copy number loss	not provided	GLikely benign
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic

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Items: 42