1989[HGNC] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 2511051	NM_001281.3(TBCB):c.16G>A (p.Val6Met)	TBCB (V6M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393713	NM_001281.3(TBCB):c.26C>T (p.Pro9Leu)	TBCB (P9L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174746	NM_001281.3(TBCB):c.50G>A (p.Ser17Asn)	TBCB (S17N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266506	NM_001281.3(TBCB):c.194G>A (p.Ser65Asn)	LOC130064285, TBCB (S14N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324760	NM_001281.3(TBCB):c.241G>A (p.Asp81Asn)	LOC130064285, TBCB (D81N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235951	NM_001281.3(TBCB):c.269A>G (p.His90Arg)	TBCB (H39R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592284	NM_001281.3(TBCB):c.281G>A (p.Arg94His)	TBCB (R43H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241724	NM_001281.3(TBCB):c.308G>C (p.Arg103Pro)	TBCB (R103P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174745	NM_001281.3(TBCB):c.326T>C (p.Ile109Thr)	TBCB (I109T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293279	NM_001281.3(TBCB):c.361G>T (p.Val121Phe)	TBCB (V121F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324759	NM_001281.3(TBCB):c.368C>G (p.Ser123Cys)	TBCB (S123C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487932	NM_001281.3(TBCB):c.391G>C (p.Gly131Arg)	TBCB (G131R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462278	NM_001281.3(TBCB):c.481G>T (p.Val161Leu)	TBCB (V110L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174747	NM_001281.3(TBCB):c.520C>G (p.Pro174Ala)	TBCB (P123A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174748	NM_001281.3(TBCB):c.565C>A (p.Pro189Thr)	TBCB (P138T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174749	NM_001281.3(TBCB):c.586C>T (p.Arg196Cys)	TBCB (R145C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263671	NM_001281.3(TBCB):c.589T>A (p.Tyr197Asn)	TBCB (Y146N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205298	NM_001281.3(TBCB):c.598C>T (p.Pro200Ser)	TBCB (P149S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595438	NM_001281.3(TBCB):c.627T>A (p.Asn209Lys)	TBCB (N209K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250354	NM_001281.3(TBCB):c.632A>G (p.Lys211Arg)	TBCB (K211R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474205	NM_001281.3(TBCB):c.634C>T (p.Arg212Cys)	TBCB (R212C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174750	NM_001281.3(TBCB):c.689C>T (p.Thr230Met)	TBCB (T179M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463624	NM_001281.3(TBCB):c.718G>A (p.Gly240Arg)	TBCB (G189R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3062377	GRCh37/hg19 19q13.12(chr19:36451071-36752221)x3	ALKBH6, CAPNS1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2684891	GRCh37/hg19 19q13.12(chr19:36312941-36751702)x3	ALKBH6, APLP1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	ALKBH6, APLP1 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685424	GRCh37/hg19 19q13.12(chr19:36570287-36655341)x3	CAPNS1, COX7A1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442794	GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	ALKBH6, APLP1 +39 more	Copy number loss	See cases	GUncertain significance
Select item 395045	GRCh37/hg19 19q13.12(chr19:36606538-36643669)x3	TBCB, CAPNS1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 253766	GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3	SIPA1L3, ALKBH6 +41 more	Copy number gain	See cases	GUncertain significance

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Items: 42