15629[HGNC] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 60146	GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1	B3GNT2, BCL11A +161 more	Copy number loss	See cases	GPathogenic
Select item 154940	GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1	B3GNT2, BCL11A +177 more	Copy number loss	See cases	GPathogenic
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 57148	GRCh38/hg38 2p16.1-15(chr2:59658846-62336083)x1	B3GNT2, BCL11A +118 more	Copy number loss	See cases	GPathogenic
Select item 545283	Single allele	B3GNT2, CCT4 +59 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60179	GRCh38/hg38 2p15(chr2:61515438-62305848)x1	B3GNT2, CCT4 +32 more	Copy number loss	See cases	GPathogenic
Select item 149946	GRCh38/hg38 2p15(chr2:62006650-62779065)x3	B3GNT2, COMMD1 +43 more	Copy number gain	See cases	GLikely benign
Select item 152565	GRCh38/hg38 2p15(chr2:62031155-62779065)x3	B3GNT2, COMMD1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 3057724	NM_006577.6(B3GNT2):c.73A>G (p.Met25Val)	B3GNT2 (M25V)	Single nucleotide variant (missense variant)	B3GNT2-related disorder	GLikely benign
Select item 2270046	NM_006577.6(B3GNT2):c.126A>G (p.Ile42Met)	B3GNT2 (I42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379969	NM_006577.6(B3GNT2):c.161C>G (p.Pro54Arg)	B3GNT2 (P54R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258796	NM_006577.6(B3GNT2):c.242C>A (p.Thr81Lys)	B3GNT2 (T81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053280	NM_006577.6(B3GNT2):c.243G>C (p.Thr81=)	B3GNT2	Single nucleotide variant (synonymous variant)	B3GNT2-related disorder	GLikely benign
Select item 3132564	NM_006577.6(B3GNT2):c.247G>A (p.Glu83Lys)	B3GNT2 (E83K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341407	NM_006577.6(B3GNT2):c.266A>G (p.Asn89Ser)	B3GNT2 (N89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709364	NM_006577.6(B3GNT2):c.309G>A (p.Thr103=)	B3GNT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2508098	NM_006577.6(B3GNT2):c.311C>T (p.Ser104Leu)	B3GNT2 (S104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132565	NM_006577.6(B3GNT2):c.394A>G (p.Ile132Val)	B3GNT2 (I132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391984	NM_006577.6(B3GNT2):c.404C>T (p.Pro135Leu)	B3GNT2 (P135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782402	NM_006577.6(B3GNT2):c.408T>G (p.Asp136Glu)	B3GNT2 (D136E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767801	NM_006577.6(B3GNT2):c.408T>A (p.Asp136Glu)	B3GNT2 (D136E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2278300	NM_006577.6(B3GNT2):c.418A>G (p.Lys140Glu)	B3GNT2 (K140E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132566	NM_006577.6(B3GNT2):c.557C>A (p.Pro186His)	B3GNT2 (P186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730478	NM_006577.6(B3GNT2):c.561A>G (p.Pro187=)	B3GNT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2304000	NM_006577.6(B3GNT2):c.946G>A (p.Ala316Thr)	B3GNT2 (A316T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375267	NM_006577.6(B3GNT2):c.952A>G (p.Arg318Gly)	B3GNT2 (R318G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057328	NM_006577.6(B3GNT2):c.1035C>T (p.Leu345=)	B3GNT2	Single nucleotide variant (synonymous variant)	B3GNT2-related disorder	GLikely benign
Select item 3258807	NM_006577.6(B3GNT2):c.1036G>A (p.Val346Ile)	B3GNT2 (V346I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	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 1341287	GRCh37/hg19 2p15(chr2:62396258-62741154)x1	B3GNT2, TMEM17	Copy number loss	not provided	GUncertain significance
Select item 625544	GRCh37/hg19 2p16.1-15(chr2:57445335-62733206)	B3GNT2, BCL11A +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 562566	GRCh37/hg19 2p15(chr2:62302506-62602053)x3	B3GNT2, COMMD1	Copy number gain	not provided	GLikely benign
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523276	GRCh37/hg19 2p15(chr2:61576332-62775261)	B3GNT2, CCT4 +5 more	Copy number gain	Dolichocephaly +3 more	GUncertain significance
Select item 443366	GRCh37/hg19 2p15-14(chr2:61701437-65731084)x1	ACTR2, AFTPH +19 more	Copy number loss	See cases	GLikely pathogenic
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 253686	GRCh37/hg19 2p16.1-15(chr2:60405806-62442792)x3	B3GNT2, BCL11A +11 more	Copy number gain	See cases	GUncertain significance

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Items: 41