ClinVar for Gene (Select 84941) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284898	NM_001382417.1(HSH2D):c.277C>T (p.Pro93Ser)	HSH2D (P68S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284897	NM_001382417.1(HSH2D):c.41G>A (p.Arg14Gln)	HSH2D (R14Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284896	NM_001382417.1(HSH2D):c.11C>T (p.Ala4Val)	HSH2D (A4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284895	NM_001382417.1(HSH2D):c.295C>T (p.His99Tyr)	HSH2D (H74Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107232	NM_001382417.1(HSH2D):c.97G>A (p.Glu33Lys)	HSH2D (E33K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107231	NM_001382417.1(HSH2D):c.734C>T (p.Pro245Leu)	HSH2D (P220L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107229	NM_001382417.1(HSH2D):c.439G>A (p.Glu147Lys)	HSH2D (E122K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107228	NM_001382417.1(HSH2D):c.283G>A (p.Glu95Lys)	HSH2D (E38K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2684888	GRCh37/hg19 19p13.12-13.11(chr19:16076374-16381932)x3	AP1M1, CIB3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2555903	NM_001382417.1(HSH2D):c.374G>A (p.Cys125Tyr)	HSH2D (C68Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521646	NM_001382417.1(HSH2D):c.119C>T (p.Ser40Leu)	HSH2D (S40L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	AKAP8, AKAP8L +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 2483032	NM_001382417.1(HSH2D):c.645G>C (p.Gln215His)	HSH2D (Q158H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2482951	NM_001382417.1(HSH2D):c.353G>T (p.Arg118Met)	HSH2D (R118M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468085	NM_001382417.1(HSH2D):c.574C>T (p.Pro192Ser)	HSH2D (P192S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 2396473	NM_001382417.1(HSH2D):c.652C>T (p.Arg218Trp)	HSH2D (R161W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2359441	NM_001382417.1(HSH2D):c.743G>A (p.Gly248Glu)	HSH2D (G223E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2294150	NM_001382417.1(HSH2D):c.301T>G (p.Ser101Ala)	HSH2D (S101A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278942	NM_001382417.1(HSH2D):c.1046C>T (p.Pro349Leu)	HSH2D (P324L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2272199	NM_001382417.1(HSH2D):c.799G>A (p.Asp267Asn)	HSH2D (D242N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2245502	NM_001382417.1(HSH2D):c.670C>A (p.His224Asn)	HSH2D (H167N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2231975	NM_001382417.1(HSH2D):c.781G>A (p.Gly261Arg)	HSH2D (G261R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223833	NM_001382417.1(HSH2D):c.1015G>A (p.Glu339Lys)	HSH2D (E339K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 777451	NM_001382417.1(HSH2D):c.309C>T (p.Asp103=)	HSH2D	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 775578	NM_001382417.1(HSH2D):c.497G>A (p.Cys166Tyr)	HSH2D (V207I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 688090	GRCh37/hg19 19p13.12-13.11(chr19:15623742-16301544)x1	CIB3, CYP4F11 +15 more	Copy number loss	not provided	GUncertain significance
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 442665	GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	ANO8, ABHD8 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
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 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 40