"GeneDx"[submitter] AND "TPSAB1"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 1273953	NM_003294.4(TPSAB1):c.1-105C>A	TPSAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278605	NM_003294.4(TPSAB1):c.61+75T>C	TPSAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267596	NM_003294.4(TPSAB1):c.62-40C>G	TPSAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261862	NM_003294.4(TPSAB1):c.62-27C>T	TPSAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233339	NM_003294.4(TPSAB1):c.83G>A (p.Arg28Gln)	TPSAB1 (R28Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1238374	NM_003294.4(TPSAB1):c.153C>T (p.His51=)	TPSAB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1244990	NM_003294.4(TPSAB1):c.216A>G (p.Ala72=)	TPSAB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1290457	NM_003294.4(TPSAB1):c.226G>C (p.Val76Leu)	TPSAB1 (V76L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1234286	NM_003294.4(TPSAB1):c.233+12G>A	TPSAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253589	NM_003294.4(TPSAB1):c.233+30G>C	TPSAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249015	NM_003294.4(TPSAB1):c.253G>A (p.Ala85Thr)	TPSAB1 (A85T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1266403	NM_003294.4(TPSAB1):c.396C>G (p.Asn132Lys)	TPSAB1 (N132K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1223908	NM_003294.4(TPSAB1):c.421A>G (p.Thr141Ala)	TPSAB1 (T141A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1247085	NM_003294.4(TPSAB1):c.484G>A (p.Asp162Asn)	TPSAB1 (D162N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1271832	NM_003294.4(TPSAB1):c.503G>C (p.Arg168Pro)	TPSAB1 (R168P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1183602	NM_003294.4(TPSAB1):c.644C>G (p.Thr215Ser)	TPSAB1 (T215S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1277523	NM_003294.4(TPSAB1):c.647G>A (p.Arg216Gln)	TPSAB1 (R216Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1283800	NM_003294.4(TPSAB1):c.657A>C (p.Ser219=)	TPSAB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1263143	NM_003294.4(TPSAB1):c.661C>A (p.Gln221Lys)	TPSAB1 (Q221K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1272115	NM_003294.4(TPSAB1):c.663+12C>G	TPSAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181180	NM_003294.4(TPSAB1):c.663+21G>C	TPSAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241480	NM_003294.4(TPSAB1):c.663+28G>C	TPSAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243440	NM_003294.4(TPSAB1):c.663+30C>A	TPSAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266738	NM_003294.4(TPSAB1):c.663+35A>C	TPSAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252504	NM_003294.4(TPSAB1):c.663+37C>T	TPSAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283301	NM_003294.4(TPSAB1):c.664-38A>C	TPSAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247157	NM_003294.4(TPSAB1):c.664-38A>G	TPSAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258036	NM_003294.4(TPSAB1):c.664-35C>T	TPSAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278416	NM_003294.4(TPSAB1):c.664-26C>T	TPSAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248165	NM_003294.4(TPSAB1):c.672C>T (p.Ser224=)	TPSAB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1260555	NM_003294.4(TPSAB1):c.711G>A (p.Leu237=)	TPSAB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1288416	NM_003294.4(TPSAB1):c.734G>A (p.Gly245Asp)	TPSAB1 (G245D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1242225	NM_003294.4(TPSAB1):c.*13T>G	TPSAB1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1222640	NM_003294.4(TPSAB1):c.*16G>T	TPSAB1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253622	GRCh37/hg19 16p13.3(chr16:72769-1511716)x1	CCDC154, CCDC78 +61 more	Copy number loss	See cases	GPathogenic

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Items: 39