ClinVar for Gene (Select 9342) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242338	GRCh37/hg19 22q11.21(chr22:19016502-21464637)x1	AIFM3, ARVCF +43 more	Copy number loss	not provided	GPathogenic
Select item 3242285	GRCh37/hg19 22q11.21(chr22:20730747-21465668)x3	AIFM3, CRKL +12 more	Copy number gain	not provided	GUncertain significance
Select item 3242284	GRCh37/hg19 22q11.21(chr22:18888685-21465668)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 3166850	NM_004782.4(SNAP29):c.655A>G (p.Ile219Val)	SNAP29 (I219V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166849	NM_004782.4(SNAP29):c.573G>T (p.Lys191Asn)	SNAP29 (K191N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166848	NM_004782.4(SNAP29):c.389C>G (p.Thr130Ser)	SNAP29 (T130S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148947	GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1	AIFM3, ARVCF +49 more	Copy number loss	See cases	GPathogenic
Select item 3148946	GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3	AIFM3, ARVCF +49 more	Copy number gain	not provided	GPathogenic
Select item 3148922	GRCh37/hg19 22q11.21(chr22:18919478-21461017)x3	AIFM3, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3148918	GRCh37/hg19 22q11.21(chr22:20723686-21800471)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GUncertain significance
Select item 3148900	GRCh37/hg19 22q11.21(chr22:20730144-21464764)x1	AIFM3, CRKL +12 more	Copy number loss	See cases	GUncertain significance
Select item 3148859	GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3	AIFM3, ARVCF +50 more	Copy number gain	not provided	GPathogenic
Select item 3148843	GRCh37/hg19 22q11.21(chr22:20716877-21800471)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GUncertain significance
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 3053782	NM_004782.4(SNAP29):c.520+3A>G	SNAP29	Single nucleotide variant (intron variant)	SNAP29-related disorder	GLikely benign
Select item 3024620	GRCh37/hg19 22q11.21(chr22:21061979-21418457)x3	AIFM3, SNAP29 +7 more	Copy number gain	not provided	GUncertain significance
Select item 3021338	NM_004782.4(SNAP29):c.354G>A (p.Gly118=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016606	NM_004782.4(SNAP29):c.436T>C (p.Leu146=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011544	NM_004782.4(SNAP29):c.354G>C (p.Gly118=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006831	NM_004782.4(SNAP29):c.468G>A (p.Gln156=)	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 3003719	NM_004782.4(SNAP29):c.619+17C>T	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 3000856	NM_004782.4(SNAP29):c.705C>T (p.Asp235=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000844	NM_004782.4(SNAP29):c.771A>G (p.Gln257=)	SNAP29	Single nucleotide variant (synonymous 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 2994531	NM_004782.4(SNAP29):c.285G>A (p.Val95=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993244	NM_004782.4(SNAP29):c.198C>T (p.Leu66=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993216	NM_004782.4(SNAP29):c.279G>A (p.Lys93=)	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 2981477	NM_004782.4(SNAP29):c.237+14A>G	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980198	NM_004782.4(SNAP29):c.666G>A (p.Gly222=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976682	NM_004782.4(SNAP29):c.141G>A (p.Gln47=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975593	NM_004782.4(SNAP29):c.234C>T (p.Ser78=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973939	NM_004782.4(SNAP29):c.238-6C>A	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971655	NM_004782.4(SNAP29):c.105C>T (p.Pro35=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971346	NM_004782.4(SNAP29):c.405T>C (p.Asn135=)	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 2970072	NM_004782.4(SNAP29):c.171C>T (p.Ala57=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969827	NM_004782.4(SNAP29):c.111G>T (p.Ala37=)	SNAP29	Single nucleotide variant (synonymous 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 2966988	NM_004782.4(SNAP29):c.190C>T (p.Leu64=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963225	NM_004782.4(SNAP29):c.642T>C (p.Gly214=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961391	NM_004782.4(SNAP29):c.597C>T (p.His199=)	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 2902883	NM_004782.4(SNAP29):c.96C>T (p.Pro32=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895735	NM_004782.4(SNAP29):c.243C>T (p.Leu81=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893545	NM_004782.4(SNAP29):c.606C>A (p.Ile202=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886221	NM_004782.4(SNAP29):c.414C>T (p.Leu138=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884092	NM_004782.4(SNAP29):c.253C>T (p.Arg85Ter)	SNAP29 (R85*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2877326	NM_004782.4(SNAP29):c.133T>C (p.Leu45=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871263	NM_004782.4(SNAP29):c.538dup (p.Ala180fs)	SNAP29 (A180fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2868882	NM_004782.4(SNAP29):c.12C>T (p.Tyr4=)	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 2866500	NM_004782.4(SNAP29):c.520+2T>C	SNAP29	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2863631	NM_004782.4(SNAP29):c.247_248del (p.Arg83fs)	SNAP29 (R83fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2862740	NM_004782.4(SNAP29):c.520+19G>A	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862121	NM_004782.4(SNAP29):c.549C>T (p.Ala183=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861499	NM_004782.4(SNAP29):c.768A>T (p.Arg256=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861398	NM_004782.4(SNAP29):c.237+8T>C	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860334	NM_004782.4(SNAP29):c.435-18G>A	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860267	NM_004782.4(SNAP29):c.438G>A (p.Leu146=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860026	NM_004782.4(SNAP29):c.434+19A>G	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859529	NM_004782.4(SNAP29):c.434+20T>G	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856032	NM_004782.4(SNAP29):c.237+11G>A	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847693	NM_004782.4(SNAP29):c.435-9T>G	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845888	NM_004782.4(SNAP29):c.564T>C (p.Ala188=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839292	NM_004782.4(SNAP29):c.521-13C>T	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834381	NM_004782.4(SNAP29):c.558T>C (p.Thr186=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825525	NM_004782.4(SNAP29):c.434+9A>G	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823432	NM_004782.4(SNAP29):c.39C>T (p.Asp13=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822866	NM_004782.4(SNAP29):c.159T>A (p.Ala53=)	SNAP29	Single nucleotide variant (synonymous 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 2804392	NM_004782.4(SNAP29):c.198C>G (p.Leu66=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797996	NM_004782.4(SNAP29):c.435-8A>G	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794435	NM_004782.4(SNAP29):c.453T>C (p.Ser151=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792067	NM_004782.4(SNAP29):c.354G>T (p.Gly118=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780850	NM_004782.4(SNAP29):c.238-20C>G	SNAP29	Single nucleotide variant (intron 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 2777876	NM_004782.4(SNAP29):c.238-14C>T	SNAP29	Single nucleotide variant (intron 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 2771540	NM_004782.4(SNAP29):c.603G>A (p.Lys201=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769428	NM_004782.4(SNAP29):c.516T>C (p.Asp172=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2763393	NM_004782.4(SNAP29):c.345G>A (p.Val115=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2762942	NM_004782.4(SNAP29):c.435-17T>C	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2760262	NM_004782.4(SNAP29):c.435-9T>C	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759547	NM_004782.4(SNAP29):c.234del (p.Glu79fs)	SNAP29 (E79fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2759269	NM_004782.4(SNAP29):c.466C>T (p.Gln156Ter)	SNAP29 (Q156*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2752370	NM_004782.4(SNAP29):c.261C>T (p.Val87=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750966	NM_004782.4(SNAP29):c.306G>A (p.Leu102=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747398	NM_004782.4(SNAP29):c.619+8T>G	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2735929	NM_004782.4(SNAP29):c.434+14C>T	SNAP29	Single nucleotide variant (intron 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 2711082	NM_004782.4(SNAP29):c.238-1G>A	SNAP29	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2710347	NM_004782.4(SNAP29):c.426C>G (p.Pro142=)	SNAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709860	NM_004782.4(SNAP29):c.521-9T>C	SNAP29	Single nucleotide variant (intron 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 2694564	NM_004782.4(SNAP29):c.235G>T (p.Glu79Ter)	SNAP29 (E79*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2672921	GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 2663892	GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3	AIFM3, ARVCF +174 more	Copy number gain	Microcephaly-digital anomalies-intellectual disability syndrome	GPathogenic

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