ClinVar for Gene (Select 4118) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362871	A109D	MAL	Single nucleotide variant	LEUKODYSTROPHY, HYPOMYELINATING, 28	GPathogenic
Select item 3292733	NM_002371.4(MAL):c.40A>T (p.Ser14Cys)	MAL (S14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122311	NM_002371.4(MAL):c.62C>T (p.Thr21Ile)	MAL (T21I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122310	NM_002371.4(MAL):c.40A>G (p.Ser14Gly)	MAL (S14G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122309	NM_002371.4(MAL):c.28A>G (p.Ser10Gly)	MAL (S10G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122308	NM_002371.4(MAL):c.226G>C (p.Gly76Arg)	MAL (G76R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685856	GRCh37/hg19 2q11.1(chr2:95341687-96259199)x3	FAHD2A, KCNIP3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2588459	NM_002371.4(MAL):c.197C>G (p.Thr66Ser)	MAL (T66S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375632	NM_002371.4(MAL):c.304G>A (p.Ala102Thr)	MAL (A102T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310748	NM_002371.4(MAL):c.271T>C (p.Tyr91His)	MAL (Y35H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
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 1526874	GRCh37/hg19 2q11.1(chr2:95341387-96735978)	ANKRD36C, FAHD2A +10 more	Copy number loss	not specified	GUncertain significance
Select item 1340501	GRCh37/hg19 2q11.1(chr2:95341686-96193214)x3	FAHD2A, KCNIP3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 687921	GRCh37/hg19 2q11.1(chr2:95476818-96193825)x3	FAHD2A, KCNIP3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 562639	GRCh37/hg19 2q11.1(chr2:95341387-96719347)x1	ANKRD36C, FAHD2A +10 more	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
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 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic
Select item 221788	GRCh37/hg19 2q11.1(chr2:95444917-95977790)x3	TEKT4, ZNF2 +5 more	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 148257	GRCh38/hg38 2q11.1(chr2:94751190-95675040)x3	FAHD2A, FAM95A +26 more	Copy number gain	See cases	GLikely benign
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 28