"GeneDx"[submitter] AND "LOC126863188"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 57701	GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1	ACR, ADM2 +211 more	Copy number loss	See cases	GPathogenic
Select item 57704	GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 151373	GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1	ACR, ADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 57705	GRCh38/hg38 22q13.33(chr22:50620720-50745568)x1	ACR, ARSA +8 more	Copy number loss	See cases	GPathogenic
Select item 151095	GRCh38/hg38 22q13.33(chr22:50642219-50780522)x3	ACR, LOC105373100 +5 more	Copy number gain	See cases	GUncertain significance
Select item 1275108	NM_001372044.2(SHANK3):c.1803-33C>T	LOC126863188, SHANK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260696	NM_001372044.2(SHANK3):c.1803-8C>T	LOC126863188, SHANK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213221	NM_001372044.2(SHANK3):c.1879-94C>T	LOC126863188, SHANK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 503925	NM_001372044.2(SHANK3):c.1953dup (p.Arg652fs)	LOC126863188, SHANK3 (R652fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1327803	NM_001372044.2(SHANK3):c.1962C>G (p.His654Gln)	LOC126863188, SHANK3 (H654Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1223877	NM_001372044.2(SHANK3):c.1985G>A (p.Arg662Gln)	LOC126863188, SHANK3 (R662Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1281019	NM_001372044.2(SHANK3):c.1961+13G>A	LOC126863188, SHANK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273679	NM_001372044.2(SHANK3):c.1961+16T>A	LOC126863188, SHANK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280332	NM_001372044.2(SHANK3):c.1961+20C>T	LOC126863188, SHANK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235834	NM_001372044.2(SHANK3):c.1961+27C>T	LOC126863188, SHANK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253866	NM_001372044.2(SHANK3):c.1961+37G>C	LOC126863188, SHANK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230727	NM_001372044.2(SHANK3):c.1962-187G>T	LOC126863188, SHANK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676461	NM_001372044.2(SHANK3):c.1962-5dup	LOC126863188, SHANK3	Duplication (intron variant)	not provided	GLikely benign
Select item 2662283	NM_001372044.2(SHANK3):c.1962-7C>A	LOC126863188, SHANK3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1254035	NM_001372044.2(SHANK3):c.1962-4G>A	LOC126863188, SHANK3	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 432387	NM_001372044.2(SHANK3):c.1962-2A>C	LOC126863188, SHANK3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3370207	NM_001372044.2(SHANK3):c.2010C>G (p.Ile670Met)	LOC126863188, SHANK3 (I670M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1343064	NM_001372044.2(SHANK3):c.2022G>A (p.Thr674=)	LOC126863188, SHANK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 235319	NM_001372044.2(SHANK3):c.2028G>A (p.Thr676=)	LOC126863188, SHANK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3365546	NM_001372044.2(SHANK3):c.2029C>T (p.Pro677Ser)	LOC126863188, SHANK3 (P677S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312589	NM_001372044.2(SHANK3):c.2035T>C (p.Phe679Leu)	LOC126863188, SHANK3 (F679L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502492	NM_001372044.2(SHANK3):c.2044C>T (p.Leu682=)	LOC126863188, SHANK3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1254130	NM_001372044.2(SHANK3):c.2055C>T (p.Leu685=)	LOC126863188, SHANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1302198	NM_001372044.2(SHANK3):c.2074G>C (p.Gly692Arg)	LOC126863188, SHANK3 (G692R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505904	NM_001372044.2(SHANK3):c.2113_2115del (p.Leu705del)	LOC126863188, SHANK3 (L705del)	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 3367342	NM_001372044.2(SHANK3):c.2116A>G (p.Ile706Val)	LOC126863188, SHANK3 (I706V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 588762	NM_001372044.2(SHANK3):c.2118C>T (p.Ile706=)	LOC126863188, SHANK3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1260872	NM_001372044.2(SHANK3):c.2086+18G>A	LOC126863188, SHANK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250069	NM_001372044.2(SHANK3):c.2086+19G>C	LOC126863188, SHANK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273571	NM_001372044.2(SHANK3):c.2086+36G>A	LOC126863188, SHANK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286288	NM_001372044.2(SHANK3):c.2087-41C>T	LOC126863188, SHANK3	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 37