57622[Gene ID] - ClinVar

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Items: 45

	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 2255339	NM_020862.2(LRFN1):c.2270G>T (p.Cys757Phe)	LRFN1 (C757F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258366	NM_020862.2(LRFN1):c.2204T>C (p.Leu735Pro)	LRFN1 (L735P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623201	NM_020862.2(LRFN1):c.2180A>G (p.Lys727Arg)	LRFN1 (K727R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493221	NM_020862.2(LRFN1):c.2078G>A (p.Gly693Glu)	LRFN1 (G693E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560910	NM_020862.2(LRFN1):c.2048C>T (p.Ala683Val)	LRFN1 (A683V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119925	NM_020862.2(LRFN1):c.2014A>G (p.Ser672Gly)	LRFN1 (S672G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119924	NM_020862.2(LRFN1):c.2005C>T (p.Pro669Ser)	LRFN1 (P669S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317680	NM_020862.2(LRFN1):c.1872G>T (p.Lys624Asn)	LRFN1 (K624N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291258	NM_020862.2(LRFN1):c.1868C>G (p.Ala623Gly)	LRFN1 (A623G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210017	NM_020862.2(LRFN1):c.1847C>T (p.Ala616Val)	LRFN1 (A616V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291256	NM_020862.2(LRFN1):c.1727T>C (p.Leu576Pro)	LRFN1 (L576P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3291257	NM_020862.2(LRFN1):c.1708G>A (p.Val570Ile)	LRFN1 (V570I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310596	NM_020862.2(LRFN1):c.1645C>A (p.Leu549Ile)	LRFN1 (L549I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119923	NM_020862.2(LRFN1):c.1565C>T (p.Ala522Val)	LRFN1 (A522V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291259	NM_020862.2(LRFN1):c.1499G>T (p.Gly500Val)	LRFN1 (G500V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119922	NM_020862.2(LRFN1):c.1497C>A (p.Asp499Glu)	LRFN1 (D499E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595894	NM_020862.2(LRFN1):c.1410G>C (p.Met470Ile)	LRFN1 (M470I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508184	NM_020862.2(LRFN1):c.1391A>G (p.Asp464Gly)	LRFN1 (D464G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332790	NM_020862.2(LRFN1):c.1280G>C (p.Arg427Pro)	LRFN1 (R427P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392853	NM_020862.2(LRFN1):c.1238C>T (p.Thr413Met)	LRFN1 (T413M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225764	NM_020862.2(LRFN1):c.1181C>T (p.Ala394Val)	LRFN1 (A394V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510129	NM_020862.2(LRFN1):c.1052G>C (p.Gly351Ala)	LRFN1 (G351A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405370	NM_020862.2(LRFN1):c.1046T>G (p.Val349Gly)	LRFN1 (V349G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379671	NM_020862.2(LRFN1):c.914C>T (p.Ala305Val)	LRFN1 (A305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119929	NM_020862.2(LRFN1):c.745T>C (p.Phe249Leu)	LRFN1 (F249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291260	NM_020862.2(LRFN1):c.731C>T (p.Pro244Leu)	LRFN1 (P244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315768	NM_020862.2(LRFN1):c.692T>A (p.Phe231Tyr)	LRFN1 (F231Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119928	NM_020862.2(LRFN1):c.682G>A (p.Asp228Asn)	LRFN1 (D228N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460427	NM_020862.2(LRFN1):c.679C>G (p.Pro227Ala)	LRFN1 (P227A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494939	NM_020862.2(LRFN1):c.605C>T (p.Ala202Val)	LRFN1 (A202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387044	NM_020862.2(LRFN1):c.569C>T (p.Thr190Ile)	LRFN1 (T190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303038	NM_020862.2(LRFN1):c.490G>A (p.Val164Met)	LRFN1 (V164M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119926	NM_020862.2(LRFN1):c.475G>T (p.Ala159Ser)	LRFN1 (A159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232183	NM_020862.2(LRFN1):c.393C>A (p.Asp131Glu)	LRFN1 (D131E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1298348	NM_020862.2(LRFN1):c.176T>C (p.Val59Ala)	LRFN1 (V59A)	Single nucleotide variant (missense variant)	LRFN1	GLikely pathogenic
Select item 2233073	NM_020862.2(LRFN1):c.91G>A (p.Gly31Ser)	LRFN1 (G31S)	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 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	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: 45