ClinVar for Gene (Select 220004) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316230	NM_145017.3(SAXO4):c.1264G>C (p.Val422Leu)	SAXO4 (V402L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316229	NM_145017.3(SAXO4):c.682G>T (p.Asp228Tyr)	SAXO4 (D228Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316228	NM_145017.3(SAXO4):c.989G>A (p.Arg330Gln)	SAXO4 (R330Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316227	NM_145017.3(SAXO4):c.53C>T (p.Ser18Leu)	SAXO4 (S18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316225	NM_145017.3(SAXO4):c.913G>A (p.Val305Ile)	SAXO4 (V285I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316224	NM_145017.3(SAXO4):c.779G>T (p.Gly260Val)	SAXO4 (G260V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316223	NM_145017.3(SAXO4):c.506G>A (p.Arg169Gln)	SAXO4 (R169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235514	NM_145017.3(SAXO4):c.994C>G (p.Pro332Ala)	SAXO4 (P312A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235513	NM_145017.3(SAXO4):c.70C>A (p.Pro24Thr)	SAXO4 (P24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235512	NM_145017.3(SAXO4):c.668A>G (p.Gln223Arg)	SAXO4 (Q223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235511	NM_145017.3(SAXO4):c.65C>T (p.Thr22Met)	SAXO4 (T22M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235510	NM_145017.3(SAXO4):c.659C>T (p.Pro220Leu)	SAXO4 (P220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235509	NM_145017.3(SAXO4):c.532G>A (p.Glu178Lys)	SAXO4 (E178K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235508	NM_145017.3(SAXO4):c.517C>T (p.Arg173Cys)	SAXO4 (R173C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235506	NM_145017.3(SAXO4):c.515C>T (p.Pro172Leu)	SAXO4 (P172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235505	NM_145017.3(SAXO4):c.485C>T (p.Pro162Leu)	SAXO4 (P162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235504	NM_145017.3(SAXO4):c.346C>T (p.Arg116Trp)	LOC121392920, SAXO4 (R116W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235503	NM_145017.3(SAXO4):c.322C>T (p.Arg108Cys)	LOC121392920, SAXO4 (R108C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235502	NM_145017.3(SAXO4):c.278C>T (p.Pro93Leu)	LOC121392920, SAXO4 (P93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235501	NM_145017.3(SAXO4):c.266A>G (p.Gln89Arg)	LOC121392920, SAXO4 (Q89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235499	NM_145017.3(SAXO4):c.226G>C (p.Gly76Arg)	SAXO4 (G76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235498	NM_145017.3(SAXO4):c.220G>A (p.Ala74Thr)	SAXO4 (A74T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235497	NM_145017.3(SAXO4):c.175C>T (p.Pro59Ser)	SAXO4 (P59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235495	NM_145017.3(SAXO4):c.1249C>G (p.His417Asp)	SAXO4 (H397D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235494	NM_145017.3(SAXO4):c.1201G>A (p.Val401Met)	SAXO4 (V381M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235493	NM_145017.3(SAXO4):c.1184G>C (p.Arg395Pro)	SAXO4 (R375P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235492	NM_145017.3(SAXO4):c.1179C>A (p.Ser393Arg)	SAXO4 (S373R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235491	NM_145017.3(SAXO4):c.1113G>T (p.Met371Ile)	SAXO4 (M351I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2477713	NM_145017.3(SAXO4):c.787C>T (p.Arg263Trp)	SAXO4 (R263W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466844	NM_145017.3(SAXO4):c.371C>T (p.Pro124Leu)	LOC121392920, SAXO4 (P124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455831	NM_145017.3(SAXO4):c.145G>A (p.Val49Ile)	SAXO4 (V49I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426363	NC_000011.9:g.(?_61197619)_(61552680_?)del	DAGLA, LRRC10B +4 more	Deletion	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2412253	NM_145017.3(SAXO4):c.508C>T (p.His170Tyr)	SAXO4 (H170Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398724	NM_145017.3(SAXO4):c.416G>A (p.Gly139Glu)	SAXO4 (G139E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376888	NM_145017.3(SAXO4):c.842C>T (p.Pro281Leu)	SAXO4 (P261L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366327	NM_145017.3(SAXO4):c.218C>T (p.Pro73Leu)	SAXO4 (P73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364859	NM_145017.3(SAXO4):c.149G>A (p.Gly50Asp)	SAXO4 (G50D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359338	NM_145017.3(SAXO4):c.1019G>A (p.Arg340Gln)	SAXO4 (R320Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347591	NM_145017.3(SAXO4):c.582G>T (p.Leu194Phe)	SAXO4 (L194F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340689	NM_145017.3(SAXO4):c.1009A>G (p.Arg337Gly)	SAXO4 (R317G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331550	NM_145017.3(SAXO4):c.178G>A (p.Val60Met)	SAXO4 (V60M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317502	NM_145017.3(SAXO4):c.746A>G (p.His249Arg)	SAXO4 (H249R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304236	NM_145017.3(SAXO4):c.239A>G (p.Gln80Arg)	LOC121392920, SAXO4 (Q80R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2280967	NM_145017.3(SAXO4):c.199C>G (p.Leu67Val)	SAXO4 (L67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275438	NM_145017.3(SAXO4):c.130C>A (p.Arg44Ser)	SAXO4 (R44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263457	NM_145017.3(SAXO4):c.792A>C (p.Glu264Asp)	SAXO4 (E244D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256761	NM_145017.3(SAXO4):c.895C>G (p.Arg299Gly)	SAXO4 (R299G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248472	NM_145017.3(SAXO4):c.900G>T (p.Met300Ile)	SAXO4 (M280I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242093	NM_145017.3(SAXO4):c.274C>T (p.Arg92Cys)	LOC121392920, SAXO4 (R92C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 785812	NM_145017.3(SAXO4):c.422A>G (p.Gln141Arg)	SAXO4 (Q141R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687991	GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3	CCDC86, CD5 +27 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 150457	GRCh38/hg38 11q12.2(chr11:61181337-61516830)x3	CPSF7, CYB561A3 +23 more	Copy number gain	See cases	GUncertain significance
Select item 146819	GRCh38/hg38 11q12.2(chr11:61409529-61821159)x3	CPSF7, DAGLA +30 more	Copy number gain	See cases	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 64