SNAP91[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	ME1, MEI4 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 2605185	NM_001242792.2(SNAP91):c.2651C>A (p.Pro884His)	SNAP91 (P760H +27 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2411422	NM_001242792.2(SNAP91):c.2615C>G (p.Ala872Gly)	SNAP91 (A812G +27 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474382	NM_001242792.2(SNAP91):c.2557C>T (p.Pro853Ser)	SNAP91 (P792S +27 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 778343	NM_001242792.2(SNAP91):c.2508T>C (p.Pro836=)	SNAP91	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 713594	NM_001242792.2(SNAP91):c.2496G>A (p.Ser832=)	SNAP91	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2539175	NM_001242792.2(SNAP91):c.2488G>A (p.Ala830Thr)	SNAP91 (A523T +27 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346343	NM_001242792.2(SNAP91):c.2485G>A (p.Gly829Arg)	SNAP91 (G592R +27 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297108	NM_001242792.2(SNAP91):c.2426C>T (p.Pro809Leu)	SNAP91 (P558L +27 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278370	NM_001242792.2(SNAP91):c.2402C>T (p.Pro801Leu)	SNAP91 (P494L +27 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303664	NM_001242792.2(SNAP91):c.2364G>T (p.Lys788Asn)	SNAP91 (K551N +27 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319546	NM_001242792.2(SNAP91):c.2314G>C (p.Gly772Arg)	SNAP91 (G648R +27 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402520	NM_001242792.2(SNAP91):c.2134T>C (p.Ser712Pro)	SNAP91 (S405P +20 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 737562	NM_001242792.2(SNAP91):c.2113C>T (p.Pro705Ser)	SNAP91 (P614S +20 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 787305	NM_001242792.2(SNAP91):c.2058T>G (p.Thr686=)	SNAP91	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2542312	NM_001242792.2(SNAP91):c.2023G>C (p.Gly675Arg)	SNAP91 (G424R +20 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393833	NM_001242792.2(SNAP91):c.1997C>T (p.Ser666Leu)	SNAP91 (S633L +16 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2591038	NM_001242792.2(SNAP91):c.1975G>T (p.Ala659Ser)	SNAP91 (A589S +16 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2623731	NM_001242792.2(SNAP91):c.1948G>A (p.Ala650Thr)	SNAP91 (A598T +16 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2209427	NM_001242792.2(SNAP91):c.1933G>A (p.Ala645Thr)	SNAP91 (A589T +16 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2285905	NM_001242792.2(SNAP91):c.1870C>T (p.Pro624Ser)	SNAP91 (P591S +12 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2350833	NM_001242792.2(SNAP91):c.1843T>C (p.Ser615Pro)	SNAP91 (S587P +12 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2592928	NM_001242792.2(SNAP91):c.1747G>C (p.Ala583Pro)	SNAP91 (A464P +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2296394	NM_001242792.2(SNAP91):c.1598C>T (p.Ala533Val)	SNAP91 (A473V +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2536533	NM_001242792.2(SNAP91):c.1505A>C (p.Glu502Ala)	SNAP91 (E383A +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 730681	NM_001242792.2(SNAP91):c.1446G>A (p.Pro482=)	SNAP91	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2360108	NM_001242792.2(SNAP91):c.1429A>G (p.Asn477Asp)	SNAP91 (N440D +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2507586	NM_001242792.2(SNAP91):c.1381C>T (p.Pro461Ser)	SNAP91 (P401S +7 more)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2478939	NM_001242792.2(SNAP91):c.1306G>A (p.Glu436Lys)	SNAP91 (E317K +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2468450	NM_001242792.2(SNAP91):c.1265C>A (p.Ala422Asp)	SNAP91 (A303D +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 792043	NM_001242792.2(SNAP91):c.1157-3T>C	SNAP91	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 720306	NM_001242792.2(SNAP91):c.1142-6C>G	SNAP91	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2304771	NM_001242792.2(SNAP91):c.836A>C (p.Glu279Ala)	SNAP91 (E248A +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065030	NM_001242792.2(SNAP91):c.766-4799T>C	SNAP91	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2375011	NM_001242792.2(SNAP91):c.716G>T (p.Arg239Leu)	SNAP91 (R181L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 155103	GRCh38/hg38 6q14.2-14.3(chr6:83656740-84324523)x4	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 151973	GRCh38/hg38 6q14.2-14.3(chr6:83656740-84324523)x3	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 59504	GRCh38/hg38 6q14.2-14.3(chr6:83656740-84305263)x3	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 2375229	NM_001242792.2(SNAP91):c.502A>G (p.Met168Val)	SNAP91 (M137V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 735398	NM_001242792.2(SNAP91):c.495A>G (p.Leu165=)	SNAP91	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2530315	NM_001242792.2(SNAP91):c.460G>C (p.Gly154Arg)	SNAP91 (G35R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457507	NM_001242792.2(SNAP91):c.419A>G (p.Gln140Arg)	SNAP91 (Q140R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618695	NM_001242792.2(SNAP91):c.355G>A (p.Asp119Asn)	SNAP91 (D88N +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 153810	GRCh38/hg38 6q14.2-14.3(chr6:83664023-84334552)x3	CEP162, CYB5R4 +18 more	Copy number gain	See cases	GUncertain significance
Select item 2619383	NM_001242792.2(SNAP91):c.166A>G (p.Ile56Val)	SNAP91 (I21V +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2309378	NM_001242792.2(SNAP91):c.145A>G (p.Thr49Ala)	SNAP91 (T49A +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 59522	GRCh38/hg38 6q14.2-14.3(chr6:83680568-84270992)x3	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 780642	NM_001242792.2(SNAP91):c.18C>G (p.Leu6=)	SNAP91	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3062931	GRCh37/hg19 6q14.2(chr6:83982285-84276653)x3	ME1, PRSS35 +1 more	Copy number gain	not specified	GUncertain significance
Select item 2498333	GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1	CEP162, CYB5R4 +18 more	Copy number loss	See cases	GPathogenic
Select item 1808383	GRCh37/hg19 6q14.2-14.3(chr6:84373743-85044270)x3	CEP162, CYB5R4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	KHDC1L, KHDC3L +88 more	Copy number gain	not specified	GPathogenic
Select item 1340905	GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1	CEP162, CGA +20 more	Copy number loss	not provided	GPathogenic
Select item 1003195	NC_000006.11:g.(?_83878953)_(84567108_?)dup	ME1, PGM3 +4 more	Duplication	not provided	GUncertain significance
Select item 689041	GRCh37/hg19 6q14.2-14.3(chr6:84369643-85044077)x3	CEP162, CYB5R4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 684916	GRCh37/hg19 6q14.2-14.3(chr6:84354003-85052572)x3	CEP162, CYB5R4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563200	GRCh37/hg19 6q14.2-14.3(chr6:84373742-85044270)x3	CYB5R4, CEP162 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	DDX43, TMEM30A +40 more	Copy number loss	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
Select item 443811	GRCh37/hg19 6q14.2-14.3(chr6:84374492-85044270)x3	CEP162, CYB5R4 +3 more	Copy number gain	See cases	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442516	GRCh37/hg19 6q14.2-14.3(chr6:84364140-85044270)x3	CEP162, CYB5R4 +3 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 393723	GRCh37/hg19 6q14.2-14.3(chr6:84366014-84922654)x3	CEP162, CYB5R4 +3 more	Copy number gain	See cases	GUncertain significance
Select item 224831	Single allele	SNAP91, PGM3 +6 more	Deletion	Immunodeficiency 23	GPathogenic

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Items: 69