18442[HGNC] - ClinVar

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Items: 26

	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 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2281696	NM_001080468.4(SYCN):c.371A>T (p.Asn124Ile)	SYCN (N124I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245048	NM_001080468.4(SYCN):c.359G>A (p.Gly120Glu)	SYCN (G120E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323826	NM_001080468.4(SYCN):c.344G>C (p.Arg115Pro)	SYCN (R115P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455320	NM_001080468.4(SYCN):c.316G>A (p.Gly106Ser)	SYCN (G106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323825	NM_001080468.4(SYCN):c.313G>A (p.Ala105Thr)	SYCN (A105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320115	NM_001080468.4(SYCN):c.306G>T (p.Lys102Asn)	SYCN (K102N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323829	NM_001080468.4(SYCN):c.295A>G (p.Lys99Glu)	SYCN (K99E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607567	NM_001080468.4(SYCN):c.268G>A (p.Val90Met)	SYCN (V90M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323828	NM_001080468.4(SYCN):c.251C>G (p.Pro84Arg)	SYCN (P84R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323827	NM_001080468.4(SYCN):c.251C>T (p.Pro84Leu)	SYCN (P84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211889	NM_001080468.4(SYCN):c.119A>G (p.Lys40Arg)	SYCN (K40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356586	NM_001080468.4(SYCN):c.89A>G (p.Lys30Arg)	SYCN (K30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386003	NM_001080468.4(SYCN):c.79G>A (p.Ala27Thr)	SYCN (A27T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279944	NM_001080468.4(SYCN):c.32T>A (p.Leu11Gln)	SYCN (L11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172551	NM_001080468.4(SYCN):c.29C>A (p.Ala10Asp)	SYCN (A10D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2685637	GRCh37/hg19 19q13.2(chr19:39549605-39732047)x1	ACP7, NCCRP1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	DPF1, ECH1 +34 more	Duplication	RYR1-related disorder	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 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	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 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

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Items: 26