YWHAE[gene] and "single gene"[properties] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1248679	NM_006761.5(YWHAE):c.156_157dup	YWHAE	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1236952	NM_006761.5(YWHAE):c.*157dup	YWHAE	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1269526	NM_006761.5(YWHAE):c.*157del	YWHAE	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 702450	NM_006761.5(YWHAE):c.756C>T (p.Asp252=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	YWHAE-related condition +1 more	GBenign/Likely benign
Select item 2418828	NM_006761.5(YWHAE):c.737C>T (p.Ala246Val)	YWHAE (A246V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1601034	NM_006761.5(YWHAE):c.716-13del	YWHAE	Deletion (intron variant)	not provided	GBenign
Select item 152857	GRCh38/hg38 17p13.3(chr17:1348488-1358016)x3	YWHAE	Copy number gain	See cases	GLikely pathogenic
Select item 2768999	NM_006761.5(YWHAE):c.715+13G>A	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1457532	NM_006761.5(YWHAE):c.715+12C>T	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 772225	NM_006761.5(YWHAE):c.690A>G (p.Leu230=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1921735	NM_006761.5(YWHAE):c.607A>G (p.Ile203Val)	YWHAE (I203V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 788199	NM_006761.5(YWHAE):c.579-9T>C	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225591	NM_006761.5(YWHAE):c.578+188C>G	YWHAE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251628	NM_006761.5(YWHAE):c.578+65C>T	YWHAE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 772366	NM_006761.5(YWHAE):c.546C>T (p.Tyr182=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 705898	NM_006761.5(YWHAE):c.534C>T (p.Ser178=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	YWHAE-related condition +1 more	GBenign/Likely benign
Select item 703556	NM_006761.5(YWHAE):c.444C>T (p.Ser148=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	YWHAE-related condition +1 more	GLikely benign
Select item 719843	NM_006761.5(YWHAE):c.435G>A (p.Ala145=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2790595	NM_006761.5(YWHAE):c.420C>T (p.Asp140=)	YWHAE	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1600109	NM_006761.5(YWHAE):c.372-19A>T	YWHAE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1579044	NM_006761.5(YWHAE):c.372-20_372-19del	YWHAE	Deletion (intron variant)	not provided	GLikely benign
Select item 1246571	NM_006761.5(YWHAE):c.372-35dup	YWHAE	Duplication (intron variant)	not provided	GBenign
Select item 2772722	NM_006761.5(YWHAE):c.372-20T>A	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226644	NM_006761.5(YWHAE):c.372-20del	YWHAE	Deletion (intron variant)	not provided	GBenign
Select item 1258946	NM_006761.5(YWHAE):c.371+132T>G	YWHAE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1586680	NM_006761.5(YWHAE):c.371+9dup	YWHAE	Duplication (intron variant)	not provided	GLikely benign
Select item 3045237	NM_006761.5(YWHAE):c.301C>T (p.Leu101=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	YWHAE-related condition	GLikely benign
Select item 260034	NM_006761.5(YWHAE):c.282G>A (p.Lys94=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 772616	NM_006761.5(YWHAE):c.279A>G (p.Leu93=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1234092	NM_006761.5(YWHAE):c.265-15dup	YWHAE	Duplication (intron variant)	not provided	GBenign
Select item 3054036	NM_006761.5(YWHAE):c.265-3T>C	YWHAE	Single nucleotide variant (intron variant)	YWHAE-related condition	GLikely benign
Select item 1535992	NM_006761.5(YWHAE):c.265-3del	YWHAE	Deletion (intron variant)	not provided	GBenign
Select item 1666347	NM_006761.5(YWHAE):c.265-15T>A	YWHAE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2828031	NM_006761.5(YWHAE):c.265-16del	YWHAE	Deletion (intron variant)	not provided	GBenign
Select item 1598899	NM_006761.5(YWHAE):c.265-16A>T	YWHAE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260033	NM_006761.5(YWHAE):c.265-23A>T	YWHAE	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1290876	NM_006761.5(YWHAE):c.265-210T>C	YWHAE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2575963	NM_006761.5(YWHAE):c.265-447C>G	YWHAE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2801562	NM_006761.5(YWHAE):c.264+19C>T	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637307	NM_006761.5(YWHAE):c.264+16C>T	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1678193	NM_006761.5(YWHAE):c.221GAG[1] (p.Gly75del)	YWHAE (G75del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2576581	NM_006761.5(YWHAE):c.179G>A (p.Trp60Ter)	YWHAE (W60*)	Single nucleotide variant (nonsense +1 more)	YWHAE-associated disorder	GLikely pathogenic
Select item 691475	NM_006761.5(YWHAE):c.142G>A (p.Ala48Thr)	YWHAE (A48T)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691476	NM_006761.5(YWHAE):c.116T>C (p.Val39Ala)	YWHAE (V39A)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 2054297	NM_006761.5(YWHAE):c.65-8C>T	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665437	NM_006761.5(YWHAE):c.65-16T>C	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182402	NM_006761.5(YWHAE):c.65-93del	YWHAE	Deletion (intron variant)	not provided	GBenign
Select item 148756	GRCh38/hg38 17p13.3(chr17:1366984-1380885)x1	YWHAE	Copy number loss	See cases	GLikely benign
Select item 154956	GRCh38/hg38 17p13.3(chr17:1375174-1405502)x1	YWHAE	Copy number loss	See cases	GLikely pathogenic
Select item 2890033	NM_006761.5(YWHAE):c.64+17A>G	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2734189	NM_006761.5(YWHAE):c.64+12G>T	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870361	NM_006761.5(YWHAE):c.64+10G>A	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608378	NM_006761.5(YWHAE):c.64+10G>C	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 706441	NM_006761.5(YWHAE):c.64+7T>G	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 800168	NM_006761.5(YWHAE):c.64+6T>C	YWHAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3032926	NM_006761.5(YWHAE):c.33G>A (p.Ala11=)	YWHAE	Single nucleotide variant (synonymous variant +1 more)	YWHAE-related condition	GLikely benign
Select item 1273124	NM_006761.5(YWHAE):c.-54G>C	YWHAE	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1269387	NC_000017.11:g.1400484C>G	YWHAE	Single nucleotide variant	not provided	GBenign
Select item 1229047	NC_000017.11:g.1400494C>A	YWHAE	Single nucleotide variant	not provided	GBenign
Select item 1450640	NC_000017.10:g.(?_1248741)_(1248813_?)dup	YWHAE	Duplication	not provided	GUncertain significance
Select item 816553	GRCh37/hg19 17p13.3(chr17:1264320-1285011)x1	YWHAE	Copy number loss	not provided	GUncertain significance
Select item 689240	GRCh37/hg19 17p13.3(chr17:1270426-1285011)x1	YWHAE	Copy number loss	not provided	GUncertain significance
Select item 687041	GRCh37/hg19 17p13.3(chr17:1271912-1283054)x1	YWHAE	Copy number loss	not provided	GUncertain significance
Select item 686631	GRCh37/hg19 17p13.3(chr17:1234257-1259930)x3	YWHAE	Copy number gain	not provided	GUncertain significance
Select item 394720	GRCh37/hg19 17p13.3(chr17:1249835-1258931)x3	YWHAE	Copy number gain	See cases	GUncertain significance
Select item 394147	GRCh37/hg19 17p13.3(chr17:1235754-1261310)x3	YWHAE	Copy number gain	See cases	GLikely benign
Select item 253997	GRCh37/hg19 17p13.3(chr17:1248758-1251720)x3	YWHAE	Copy number gain	See cases	GUncertain significance
Select item 253701	GRCh37/hg19 17p13.3(chr17:1235754-1261369)x3	YWHAE	Copy number gain	See cases	GUncertain significance

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Items: 68