SUSD4[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 146516	GRCh38/hg38 1q41(chr1:220673535-223683512)x1	AIDA, BROX +84 more	Copy number loss	See cases	GPathogenic
Select item 146329	GRCh38/hg38 1q41(chr1:222676842-223882311)x1	AIDA, BROX +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 3323687	NM_017982.4(SUSD4):c.1418C>G (p.Thr473Ser)	SUSD4 (T473S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539530	NM_017982.4(SUSD4):c.1412C>A (p.Ala471Glu)	SUSD4 (A543E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309200	NM_017982.4(SUSD4):c.1397C>T (p.Thr466Met)	SUSD4 (T466M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610682	NM_017982.4(SUSD4):c.1343G>C (p.Arg448Thr)	SUSD4 (R520T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396107	NM_017982.4(SUSD4):c.1318C>T (p.Leu440Phe)	SUSD4 (L512F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598728	NM_017982.4(SUSD4):c.1310C>T (p.Ser437Phe)	SUSD4 (S437F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398466	NM_017982.4(SUSD4):c.1183A>C (p.Met395Leu)	SUSD4 (M467L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525079	NM_017982.4(SUSD4):c.1120G>A (p.Val374Ile)	SUSD4 (V446I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388721	NM_017982.4(SUSD4):c.1084A>G (p.Ser362Gly)	SUSD4 (S362G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271867	NM_017982.4(SUSD4):c.1073G>A (p.Arg358Gln)	SUSD4 (R430Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172287	NM_017982.4(SUSD4):c.1072C>T (p.Arg358Trp)	SUSD4 (R358W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225637	NM_017982.4(SUSD4):c.1009G>A (p.Val337Ile)	SUSD4 (V337I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612675	NM_017982.4(SUSD4):c.893A>T (p.Tyr298Phe)	SUSD4 (Y298F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353157	NM_017982.4(SUSD4):c.870G>T (p.Gln290His)	SUSD4 (Q362H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323686	NM_017982.4(SUSD4):c.823G>C (p.Asp275His)	SUSD4 (D275H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538973	NM_017982.4(SUSD4):c.775C>T (p.Arg259Trp)	SUSD4 (R331W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323690	NM_017982.4(SUSD4):c.773C>T (p.Pro258Leu)	SUSD4 (P330L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324395	NM_017982.4(SUSD4):c.763G>A (p.Val255Ile)	SUSD4 (V327I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172294	NM_017982.4(SUSD4):c.754G>A (p.Gly252Arg)	SUSD4 (G252R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243135	NM_017982.4(SUSD4):c.707G>C (p.Arg236Pro)	SUSD4 (R236P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512174	NM_017982.4(SUSD4):c.706C>G (p.Arg236Gly)	SUSD4 (R236G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323691	NM_017982.4(SUSD4):c.623A>G (p.Tyr208Cys)	SUSD4 (Y208C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172293	NM_017982.4(SUSD4):c.616A>G (p.Ile206Val)	SUSD4 (I206V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339970	NM_017982.4(SUSD4):c.559T>A (p.Ser187Thr)	SUSD4 (S187T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172292	NM_017982.4(SUSD4):c.497G>A (p.Arg166His)	SUSD4 (R238H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172291	NM_017982.4(SUSD4):c.443A>G (p.His148Arg)	SUSD4 (H220R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562753	NM_017982.4(SUSD4):c.368G>A (p.Arg123His)	SUSD4 (R195H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323689	NM_017982.4(SUSD4):c.363T>A (p.Asp121Glu)	SUSD4 (D193E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324190	NM_017982.4(SUSD4):c.358G>A (p.Glu120Lys)	SUSD4 (E192K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230769	NM_017982.4(SUSD4):c.227T>C (p.Phe76Ser)	SUSD4 (F76S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513906	NM_017982.4(SUSD4):c.220G>C (p.Val74Leu)	SUSD4 (V74L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210932	NM_017982.4(SUSD4):c.214G>A (p.Gly72Arg)	SUSD4 (G72R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244260	NM_017982.4(SUSD4):c.208C>G (p.Pro70Ala)	SUSD4 (P142A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172290	NM_017982.4(SUSD4):c.188C>T (p.Pro63Leu)	SUSD4 (P135L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375698	NM_017982.4(SUSD4):c.161T>G (p.Leu54Arg)	SUSD4 (L126R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 3172288	NM_017982.4(SUSD4):c.143C>T (p.Thr48Met)	SUSD4 (T48M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214416	NM_017982.4(SUSD4):c.86T>C (p.Leu29Pro)	SUSD4 (L29P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323688	NM_017982.4(SUSD4):c.74C>A (p.Ser25Tyr)	SUSD4 (S25Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323693	NM_017982.4(SUSD4):c.71A>G (p.Gln24Arg)	SUSD4 (Q24R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463017	NM_017982.4(SUSD4):c.31G>A (p.Asp11Asn)	SUSD4 (D11N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247243	NM_017982.4(SUSD4):c.20C>T (p.Pro7Leu)	SUSD4 (P7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3062480	GRCh37/hg19 1q41(chr1:222698623-224065782)x3	AIDA, BROX +11 more	Copy number gain	not specified	GUncertain significance
Select item 2685843	GRCh37/hg19 1q41-42.11(chr1:222641390-224104993)x1	AIDA, BROX +11 more	Copy number loss	not provided	GUncertain significance
Select item 1809014	GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1	AIDA, BROX +21 more	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527581	GRCh37/hg19 1q41(chr1:223136439-223407603)	DISP1, SUSD4 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1340509	GRCh37/hg19 1q41(chr1:223138949-223407603)x3	DISP1, SUSD4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979934	GRCh37/hg19 1q41-42.12(chr1:222605125-224696628)x1	TLR5, DEGS1 +16 more	Copy number loss	not provided	GPathogenic
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814167	GRCh37/hg19 1q41(chr1:223424644-223484906)x1	SUSD4	Copy number loss	not provided	GUncertain significance
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 814162	GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1	BROX, HHIPL2 +24 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 74