ClinVar for Gene (Select 219988) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208944	NM_152716.3(PATL1):c.760G>A (p.Val254Ile)	PATL1 (V254I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208943	NM_152716.3(PATL1):c.571C>G (p.Pro191Ala)	PATL1 (P191A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208942	NM_152716.3(PATL1):c.412C>T (p.Pro138Ser)	PATL1 (P138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208941	NM_152716.3(PATL1):c.280G>A (p.Val94Met)	PATL1 (V94M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208940	NM_152716.3(PATL1):c.2258G>A (p.Arg753Gln)	PATL1 (R753Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208938	NM_152716.3(PATL1):c.1951A>T (p.Ser651Cys)	PATL1 (S651C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208937	NM_152716.3(PATL1):c.1850C>T (p.Ala617Val)	PATL1 (A617V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208936	NM_152716.3(PATL1):c.1639C>A (p.Leu547Met)	PATL1 (L547M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208935	NM_152716.3(PATL1):c.1420A>G (p.Lys474Glu)	PATL1 (K474E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208934	NM_152716.3(PATL1):c.1166G>A (p.Arg389Gln)	PATL1 (R389Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2616960	NM_152716.3(PATL1):c.842A>C (p.Gln281Pro)	PATL1 (Q281P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592339	NM_152716.3(PATL1):c.769G>C (p.Val257Leu)	PATL1 (V257L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541323	NM_152716.3(PATL1):c.1679A>G (p.His560Arg)	PATL1 (H560R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531639	NM_152716.3(PATL1):c.541A>G (p.Ile181Val)	PATL1 (I181V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510567	NM_152716.3(PATL1):c.25G>A (p.Asp9Asn)	PATL1 (D9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468764	NM_152716.3(PATL1):c.1165C>T (p.Arg389Trp)	PATL1 (R389W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466542	NM_152716.3(PATL1):c.1574T>C (p.Ile525Thr)	PATL1 (I525T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2410911	NM_152716.3(PATL1):c.1343A>C (p.Glu448Ala)	PATL1 (E448A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373665	NM_152716.3(PATL1):c.1589A>G (p.Tyr530Cys)	PATL1 (Y530C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363498	NM_152716.3(PATL1):c.1334C>T (p.Ala445Val)	PATL1 (A445V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342908	NM_152716.3(PATL1):c.973G>A (p.Ala325Thr)	PATL1 (A325T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342820	NM_152716.3(PATL1):c.220G>A (p.Asp74Asn)	PATL1 (D74N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319954	NM_152716.3(PATL1):c.707A>C (p.Gln236Pro)	PATL1 (Q236P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315340	NM_152716.3(PATL1):c.785A>C (p.Gln262Pro)	PATL1 (Q262P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274540	NM_152716.3(PATL1):c.2179C>T (p.Arg727Trp)	PATL1 (R727W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269206	NM_152716.3(PATL1):c.601G>A (p.Val201Ile)	PATL1 (V201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264326	NM_152716.3(PATL1):c.346C>A (p.Pro116Thr)	PATL1 (P116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219715	NM_152716.3(PATL1):c.470G>C (p.Arg157Thr)	PATL1 (R157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207823	NM_152716.3(PATL1):c.1547G>A (p.Arg516Gln)	PATL1 (R516Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203831	NM_152716.3(PATL1):c.1837C>T (p.Leu613Phe)	PATL1 (L613F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 786195	NM_152716.3(PATL1):c.910C>A (p.Arg304=)	PATL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771889	NM_152716.3(PATL1):c.877C>T (p.Leu293Phe)	PATL1 (L293F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 747238	NM_152716.3(PATL1):c.1629T>C (p.Tyr543=)	PATL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718522	NM_152716.3(PATL1):c.1045A>G (p.Met349Val)	PATL1 (M349V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 716170	NM_152716.3(PATL1):c.400C>A (p.Arg134=)	PATL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716169	NM_152716.3(PATL1):c.1068C>T (p.His356=)	PATL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710009	NM_152716.3(PATL1):c.675T>C (p.Pro225=)	PATL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 46