"GeneDx"[submitter] AND "SNAP29"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59232	GRCh38/hg38 22q11.21(chr22:20363880-21073647)x1	LOC132090638, LOC132090918 +62 more	Copy number loss	See cases	GPathogenic
Select item 59234	GRCh38/hg38 22q11.21(chr22:20379137-21151128)x1	AIFM3, CRKL +61 more	Copy number loss	See cases	GPathogenic
Select item 58214	GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3	AIFM3, CCDC116 +123 more	Copy number gain	See cases	GPathogenic
Select item 145120	GRCh38/hg38 22q11.21(chr22:20711594-21583391)x1	AIFM3, CRKL +52 more	Copy number loss	See cases	GPathogenic
Select item 786694	NM_058004.4(PI4KA):c.24AGGCGG[5] (p.Gly18_Cys19insGlyGly)	PI4KA, SNAP29	Microsatellite	not provided +1 more	GBenign
Select item 1194492	NC_000022.11:g.20858944dup	SNAP29	Duplication	not provided	GLikely benign
Select item 1205327	NM_004782.4(SNAP29):c.-54G>T	SNAP29	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 340826	NM_004782.4(SNAP29):c.-19C>T	PI4KA, SNAP29	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
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 279894	NM_004782.4(SNAP29):c.2T>C (p.Met1Thr)	SNAP29 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 340830	NM_004782.4(SNAP29):c.18A>G (p.Lys6=)	PI4KA, SNAP29	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 340832	NM_004782.4(SNAP29):c.234C>G (p.Ser78=)	SNAP29	Single nucleotide variant (synonymous variant)	CEDNIK syndrome +2 more	GBenign/Likely 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 620507	NM_004782.4(SNAP29):c.250C>T (p.Gln84Ter)	SNAP29 (Q84*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1305025	NM_004782.4(SNAP29):c.280A>T (p.Met94Leu)	SNAP29 (M94L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 279932	NM_004782.4(SNAP29):c.354dup (p.Leu119fs)	SNAP29 (L119fs)	Duplication (frameshift variant)	CEDNIK syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1315282	NM_004782.4(SNAP29):c.434+5G>A	SNAP29	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 50295	NM_004782.4(SNAP29):c.487dup (p.Ser163fs)	SNAP29 (S163fs)	Duplication (frameshift variant)	CEDNIK syndrome +1 more	GPathogenic
Select item 235285	NM_004782.4(SNAP29):c.487A>G (p.Ser163Gly)	SNAP29 (S163G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1187711	NM_004782.4(SNAP29):c.520+214C>G	SNAP29	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 900135	NM_004782.4(SNAP29):c.607G>A (p.Asp203Asn)	SNAP29 (D203N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1300754	NM_004782.4(SNAP29):c.620-210AC[9]	SNAP29	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1276334	NM_004782.4(SNAP29):c.620-113T>C	SNAP29	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272851	NM_004782.4(SNAP29):c.620-113del	SNAP29	Deletion (intron variant)	not provided	GBenign
Select item 421595	NM_004782.4(SNAP29):c.622G>T (p.Glu208Ter)	SNAP29 (E208*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1304191	NM_004782.4(SNAP29):c.623A>T (p.Glu208Val)	SNAP29 (E208V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 436825	NM_004782.4(SNAP29):c.629C>T (p.Ser210Phe)	SNAP29 (S210F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1307670	NM_004782.4(SNAP29):c.695A>G (p.Asp232Gly)	SNAP29 (D232G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 340838	NM_004782.4(SNAP29):c.*123G>C	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome +1 more	GBenign
Select item 253902	GRCh37/hg19 22q11.21(chr22:21056165-21440514)x3	THAP7, P2RX6 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253719	GRCh37/hg19 22q11.21(chr22:20958986-21440514)x3	THAP7, LZTR1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253550	GRCh37/hg19 22q11.21(chr22:18650664-21440514)x3	AIFM3, ARVCF +46 more	Copy number gain	See cases	GPathogenic
Select item 253528	GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1	AIFM3, BCR +40 more	Copy number loss	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 253443	GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3	GGTLC3, GNB1L +84 more	Copy number gain	See cases	GPathogenic
Select item 253416	GRCh37/hg19 22q11.21(chr22:18900442-21440514)x1	AIFM3, ARVCF +44 more	Copy number loss	See cases	GPathogenic
Select item 253401	GRCh37/hg19 22q11.21(chr22:18894835-21440514)x1	AIFM3, ARVCF +45 more	Copy number loss	See cases	GPathogenic
Select item 253390	GRCh37/hg19 22q11.21(chr22:18894339-21440514)x1	AIFM3, ARVCF +45 more	Copy number loss	See cases	GPathogenic
Select item 253383	GRCh37/hg19 22q11.21(chr22:19023801-21440514)x1	CLTCL1, COMT +43 more	Copy number loss	See cases	GPathogenic
Select item 253361	GRCh37/hg19 22q11.21(chr22:21074920-21440514)x1	SLC7A4, CRKL +7 more	Copy number loss	See cases	GLikely pathogenic

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Items: 48