SNAP29[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1194492	NC_000022.11:g.20858944dup	SNAP29	Duplication	not provided	GLikely benign
Select item 901232	NM_004782.4(SNAP29):c.-93G>T	SNAP29	Single nucleotide variant (5 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340821	NM_004782.4(SNAP29):c.-76G>A	SNAP29	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 340822	NM_004782.4(SNAP29):c.-70_-69del	SNAP29	Deletion (5 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340823	NM_004782.4(SNAP29):c.-68A>T	SNAP29	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 901233	NM_004782.4(SNAP29):c.-60G>A	SNAP29	Single nucleotide variant (5 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901234	NM_004782.4(SNAP29):c.-58C>A	SNAP29	Single nucleotide variant (5 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 1205327	NM_004782.4(SNAP29):c.-54G>T	SNAP29	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 340824	NM_004782.4(SNAP29):c.-40T>G	SNAP29	Single nucleotide variant (5 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340825	NM_004782.4(SNAP29):c.-32C>G	SNAP29	Single nucleotide variant (5 prime UTR variant)	CEDNIK syndrome +1 more	GBenign/Likely benign
Select item 340827	NM_004782.4(SNAP29):c.-8C>G	SNAP29	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 340828	NM_004782.4(SNAP29):c.-5G>A	SNAP29	Single nucleotide variant (5 prime UTR variant)	CEDNIK syndrome +2 more	GBenign/Likely benign
Select item 3054427	NM_004782.4(SNAP29):c.-3A>G	SNAP29	Single nucleotide variant (5 prime UTR variant)	SNAP29-related disorder	GLikely benign
Select item 279894	NM_004782.4(SNAP29):c.2T>C (p.Met1Thr)	SNAP29 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 340829	NM_004782.4(SNAP29):c.6A>G (p.Ser2=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2308851	NM_004782.4(SNAP29):c.11A>G (p.Tyr4Cys)	SNAP29 (Y4C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2868882	NM_004782.4(SNAP29):c.12C>T (p.Tyr4=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620941	NM_004782.4(SNAP29):c.14C>G (p.Pro5Arg)	SNAP29 (P5R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1548151	NM_004782.4(SNAP29):c.15T>G (p.Pro5=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1162872	NM_004782.4(SNAP29):c.16A>G (p.Lys6Glu)	SNAP29 (K6E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117730	NM_004782.4(SNAP29):c.20G>A (p.Ser7Asn)	SNAP29 (S7N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162873	NM_004782.4(SNAP29):c.22T>C (p.Tyr8His)	SNAP29 (Y8H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983491	NM_004782.4(SNAP29):c.26A>G (p.Asn9Ser)	SNAP29 (N9S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 711732	NM_004782.4(SNAP29):c.36C>T (p.Asp12=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526417	NM_004782.4(SNAP29):c.37G>T (p.Asp13Tyr)	SNAP29 (D13Y)	Single nucleotide variant (missense variant)	CEDNIK syndrome	GUncertain significance
Select item 2823432	NM_004782.4(SNAP29):c.39C>T (p.Asp13=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004947	NM_004782.4(SNAP29):c.45G>A (p.Gly15=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1359280	NM_004782.4(SNAP29):c.48G>T (p.Glu16Asp)	SNAP29 (E16D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162874	NM_004782.4(SNAP29):c.51C>G (p.Asp17Glu)	SNAP29 (D17E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1162875	NM_004782.4(SNAP29):c.58G>C (p.Ala20Pro)	SNAP29 (A20P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1925743	NM_004782.4(SNAP29):c.60C>T (p.Ala20=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992090	NM_004782.4(SNAP29):c.66G>A (p.Pro22=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1930218	NM_004782.4(SNAP29):c.71C>T (p.Pro24Leu)	SNAP29 (P24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734948	NM_004782.4(SNAP29):c.72T>A (p.Pro24=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1502959	NM_004782.4(SNAP29):c.80A>T (p.Asp27Val)	SNAP29 (D27V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907472	NM_004782.4(SNAP29):c.81C>G (p.Asp27Glu)	SNAP29 (D27E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280840	NM_004782.4(SNAP29):c.85C>T (p.Arg29Ter)	SNAP29 (R29*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1205396	NM_004782.4(SNAP29):c.91C>T (p.Leu31Phe)	SNAP29 (L31F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902883	NM_004782.4(SNAP29):c.96C>T (p.Pro32=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779469	NM_004782.4(SNAP29):c.102G>T (p.Gly34=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187480	NM_004782.4(SNAP29):c.103C>T (p.Pro35Ser)	SNAP29 (P35S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2971655	NM_004782.4(SNAP29):c.105C>T (p.Pro35=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970293	NM_004782.4(SNAP29):c.105C>G (p.Pro35=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867406	NM_004782.4(SNAP29):c.108del (p.Asp36fs)	SNAP29 (D36fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2969827	NM_004782.4(SNAP29):c.111G>T (p.Ala37=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791217	NM_004782.4(SNAP29):c.113C>T (p.Pro38Leu)	SNAP29 (P38L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1332801	NM_004782.4(SNAP29):c.118G>T (p.Asp40Tyr)	SNAP29 (D40Y)	Single nucleotide variant (missense variant)	CEDNIK syndrome	GLikely pathogenic
Select item 1314323	NM_004782.4(SNAP29):c.122G>A (p.Arg41Lys)	SNAP29 (R41K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 340831	NM_004782.4(SNAP29):c.130T>C (p.Tyr44His)	SNAP29 (Y44H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1336073	NM_004782.4(SNAP29):c.131A>G (p.Tyr44Cys)	SNAP29 (Y44C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2877326	NM_004782.4(SNAP29):c.133T>C (p.Leu45=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926258	NM_004782.4(SNAP29):c.136C>A (p.Arg46=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712430	NM_004782.4(SNAP29):c.139C>T (p.Gln47Ter)	SNAP29 (Q47*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2388769	NM_004782.4(SNAP29):c.140A>C (p.Gln47Pro)	SNAP29 (Q47P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2976682	NM_004782.4(SNAP29):c.141G>A (p.Gln47=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067032	NM_004782.4(SNAP29):c.142G>A (p.Glu48Lys)	SNAP29 (E48K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934756	NM_004782.4(SNAP29):c.144G>A (p.Glu48=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1162876	NM_004782.4(SNAP29):c.145G>A (p.Val49Ile)	SNAP29 (V49I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968550	NM_004782.4(SNAP29):c.146T>G (p.Val49Gly)	SNAP29 (V49G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962745	NM_004782.4(SNAP29):c.149T>A (p.Leu50His)	SNAP29 (L50H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335993	NM_004782.4(SNAP29):c.149T>C (p.Leu50Pro)	SNAP29 (L50P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2044212	NM_004782.4(SNAP29):c.153C>G (p.Arg51=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956135	NM_004782.4(SNAP29):c.157G>A (p.Ala53Thr)	SNAP29 (A53T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822866	NM_004782.4(SNAP29):c.159T>A (p.Ala53=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776105	NM_004782.4(SNAP29):c.159T>G (p.Ala53=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700675	NM_004782.4(SNAP29):c.165C>T (p.Ala55=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970072	NM_004782.4(SNAP29):c.171C>T (p.Ala57=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614048	NM_004782.4(SNAP29):c.174C>A (p.Ala58=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903660	NM_004782.4(SNAP29):c.180C>T (p.Thr60=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966988	NM_004782.4(SNAP29):c.190C>T (p.Leu64=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3353188	NM_004782.4(SNAP29):c.193G>A (p.Ala65Thr)	SNAP29 (A65T)	Single nucleotide variant (missense variant)	SNAP29-related disorder	GUncertain significance
Select item 448435	NM_004782.4(SNAP29):c.193G>C (p.Ala65Pro)	SNAP29 (A65P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993244	NM_004782.4(SNAP29):c.198C>T (p.Leu66=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804392	NM_004782.4(SNAP29):c.198C>G (p.Leu66=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 902682	NM_004782.4(SNAP29):c.199A>G (p.Met67Val)	SNAP29 (M67V)	Single nucleotide variant (missense variant)	CEDNIK syndrome	GUncertain significance
Select item 1413299	NM_004782.4(SNAP29):c.206A>G (p.Glu69Gly)	SNAP29 (E69G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 809327	NM_004782.4(SNAP29):c.214A>G (p.Lys72Glu)	SNAP29 (K72E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 224877	NM_004782.4(SNAP29):c.223del (p.Val75fs)	SNAP29 (V75fs)	Deletion (frameshift variant)	CEDNIK syndrome	GPathogenic/Likely pathogenic
Select item 2759547	NM_004782.4(SNAP29):c.234del (p.Glu79fs)	SNAP29 (E79fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2975593	NM_004782.4(SNAP29):c.234C>T (p.Ser78=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 340832	NM_004782.4(SNAP29):c.234C>G (p.Ser78=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2694564	NM_004782.4(SNAP29):c.235G>T (p.Glu79Ter)	SNAP29 (E79*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2861398	NM_004782.4(SNAP29):c.237+8T>C	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1981089	NM_004782.4(SNAP29):c.237+10G>A	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 902683	NM_004782.4(SNAP29):c.237+10G>T	SNAP29	Single nucleotide variant (intron variant)	CEDNIK syndrome	GUncertain significance
Select item 2856032	NM_004782.4(SNAP29):c.237+11G>A	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002365	NM_004782.4(SNAP29):c.237+13C>T	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981477	NM_004782.4(SNAP29):c.237+14A>G	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817078	NM_004782.4(SNAP29):c.237+17G>A	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278646	NM_004782.4(SNAP29):c.238-291G>A	SNAP29	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270455	NM_004782.4(SNAP29):c.238-44G>A	SNAP29	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2780850	NM_004782.4(SNAP29):c.238-20C>G	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968283	NM_004782.4(SNAP29):c.238-14C>G	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777876	NM_004782.4(SNAP29):c.238-14C>T	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995399	NM_004782.4(SNAP29):c.238-13T>A	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 902684	NM_004782.4(SNAP29):c.238-12C>T	SNAP29	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2973939	NM_004782.4(SNAP29):c.238-6C>A	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 987215	NM_004782.4(SNAP29):c.238-2A>G	SNAP29	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2711082	NM_004782.4(SNAP29):c.238-1G>A	SNAP29	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3321104	NM_004782.4(SNAP29):c.239A>C (p.Glu80Ala)	SNAP29 (E80A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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