ClinVar for Gene (Select 157556) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259618	NM_024812.3(BAALC):c.104C>T (p.Ala35Val)	BAALC, BAALC-AS2 (A35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132738	NM_024812.3(BAALC):c.61C>G (p.Arg21Gly)	BAALC, BAALC-AS2 (R21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602493	NM_024812.3(BAALC):c.26A>T (p.Asp9Val)	BAALC, BAALC-AS2 +1 more (D9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489687	NM_024812.3(BAALC):c.40C>G (p.Arg14Gly)	BAALC, BAALC-AS2 +1 more (R14G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333909	NM_024812.3(BAALC):c.125C>G (p.Pro42Arg)	BAALC, BAALC-AS2 (P42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208811	NM_024812.3(BAALC):c.54C>G (p.Ser18Arg)	BAALC, BAALC-AS2 (S18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 153234	GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1	ANKRD46, ATP6V1C1 +234 more	Copy number loss	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 149076	GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	RRM2B, RSPO2 +188 more	Copy number loss	See cases	GPathogenic
Select item 147649	GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1	ATP6V1C1, AZIN1 +154 more	Copy number loss	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 144641	GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1	ABRA, ANGPT1 +154 more	Copy number loss	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 57125	GRCh38/hg38 8q22.3(chr8:101962098-103357772)x3	ATP6V1C1, AZIN1 +92 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 26