GCA[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 1279709	NC_000002.12:g.162318816A>T	GCA, IFIH1 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3098963	NM_012198.5(GCA):c.334A>C (p.Asn112His)	GCA (N112H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113270	NM_033272.4(KCNH7):c.3577C>A (p.Leu1193Ile)	GCA, KCNH7 (L1193I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113269	NM_033272.4(KCNH7):c.3487G>A (p.Val1163Ile)	GCA, KCNH7 (V1163I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495365	NM_033272.4(KCNH7):c.3374C>T (p.Ser1125Phe)	GCA, KCNH7 (S1125F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113268	NM_033272.4(KCNH7):c.3278C>T (p.Pro1093Leu)	GCA, KCNH7 (P1093L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287613	NM_033272.4(KCNH7):c.3257A>G (p.Gln1086Arg)	GCA, KCNH7 (Q1086R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3113267	NM_033272.4(KCNH7):c.3250A>G (p.Ile1084Val)	GCA, KCNH7 (I1084V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 3062503	GRCh37/hg19 2q24.1-24.3(chr2:157718631-165360287)x1	CCDC148, CD302 +29 more	Copy number loss	not specified	GPathogenic
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 1526927	GRCh37/hg19 2q24.2-24.3(chr2:163168812-167567296)	COBLL1, CSRNP3 +13 more	Copy number gain	not specified	GPathogenic
Select item 1526925	GRCh37/hg19 2q24.2-24.3(chr2:161551326-167762790)	COBLL1, CSRNP3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1526924	GRCh37/hg19 2q24.1-24.3(chr2:158950827-164456735)	BAZ2B, CCDC148 +22 more	Copy number loss	not specified	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 980601	GRCh37/hg19 2q24.2(chr2:162620633-163421321)x1	DPP4, GCA +5 more	Copy number loss	not provided	GUncertain significance
Select item 932937	GRCh37/hg19 2q24.2-24.3(chr2:160075929-164666149)	BAZ2B, CD302 +19 more	Copy number loss	Autistic behavior +1 more	GLikely pathogenic
Select item 626293	Single allele	COBLL1, CSRNP3 +18 more	Deletion	not provided	GPathogenic
Select item 523686	Single allele	LY75-CD302, MARCHF7 +19 more	Deletion	Severe global developmental delay +1 more	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 443473	GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1	ACVR1, ACVR1C +42 more	Copy number loss	See cases	GPathogenic
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 253674	GRCh37/hg19 2q24.2-24.3(chr2:161542325-164640864)x1	FAP, GCG +9 more	Copy number loss	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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Items: 30