ClinVar for Gene (Select 197187) - ClinVar

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

Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321100	NM_178310.4(SNAI3):c.440G>A (p.Arg147Gln)	SNAI3, SNAI3-AS1 (R147Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321099	NM_178310.4(SNAI3):c.64G>C (p.Glu22Gln)	LOC130059746, SNAI3 +1 more (E22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321098	NM_178310.4(SNAI3):c.200G>T (p.Cys67Phe)	SNAI3, SNAI3-AS1 (C67F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321096	NM_178310.4(SNAI3):c.83A>G (p.Asn28Ser)	SNAI3, SNAI3-AS1 (N28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166845	NM_178310.4(SNAI3):c.563G>T (p.Cys188Phe)	SNAI3, SNAI3-AS1 (C188F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166844	NM_178310.4(SNAI3):c.452G>T (p.Gly151Val)	SNAI3, SNAI3-AS1 (G151V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166843	NM_178310.4(SNAI3):c.400G>T (p.Gly134Trp)	SNAI3, SNAI3-AS1 (G134W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166842	NM_178310.4(SNAI3):c.377C>T (p.Pro126Leu)	SNAI3, SNAI3-AS1 (P126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166841	NM_178310.4(SNAI3):c.341T>C (p.Leu114Pro)	SNAI3, SNAI3-AS1 (L114P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166840	NM_178310.4(SNAI3):c.296G>A (p.Arg99Gln)	SNAI3, SNAI3-AS1 (R99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166839	NM_178310.4(SNAI3):c.223C>T (p.Arg75Trp)	SNAI3, SNAI3-AS1 (R75W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613772	NM_178310.4(SNAI3):c.70C>G (p.Gln24Glu)	LOC130059746, SNAI3 +1 more (Q24E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611000	NM_178310.4(SNAI3):c.38A>G (p.His13Arg)	LOC130059746, SNAI3 +1 more (H13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598151	NM_178310.4(SNAI3):c.280G>A (p.Asp94Asn)	SNAI3, SNAI3-AS1 (D94N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593127	NM_178310.4(SNAI3):c.286C>T (p.Arg96Trp)	SNAI3, SNAI3-AS1 (R96W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590775	NM_178310.4(SNAI3):c.131G>A (p.Arg44Gln)	SNAI3, SNAI3-AS1 (R44Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 2495527	NM_178310.4(SNAI3):c.232G>A (p.Glu78Lys)	SNAI3, SNAI3-AS1 (E78K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494684	NM_178310.4(SNAI3):c.182G>A (p.Arg61His)	SNAI3, SNAI3-AS1 (R61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492531	NM_178310.4(SNAI3):c.433A>G (p.Met145Val)	SNAI3, SNAI3-AS1 (M145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491987	NM_178310.4(SNAI3):c.601C>T (p.His201Tyr)	SNAI3, SNAI3-AS1 (H201Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485602	NM_178310.4(SNAI3):c.42G>C (p.Arg14Ser)	LOC130059746, SNAI3 +1 more (R14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373269	NM_178310.4(SNAI3):c.19G>C (p.Val7Leu)	LOC130059746, SNAI3 +1 more (V7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367980	NM_178310.4(SNAI3):c.74G>C (p.Arg25Thr)	LOC130059746, SNAI3 +1 more (R25T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329086	NM_178310.4(SNAI3):c.163C>A (p.Leu55Ile)	SNAI3, SNAI3-AS1 (L55I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291206	NM_178310.4(SNAI3):c.562T>A (p.Cys188Ser)	SNAI3, SNAI3-AS1 (C188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264691	NM_178310.4(SNAI3):c.277G>A (p.Val93Ile)	SNAI3, SNAI3-AS1 (V93I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255604	NM_178310.4(SNAI3):c.268G>T (p.Val90Phe)	SNAI3, SNAI3-AS1 (V90F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243895	NM_178310.4(SNAI3):c.332A>T (p.His111Leu)	SNAI3, SNAI3-AS1 (H111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232924	NM_178310.4(SNAI3):c.544G>C (p.Val182Leu)	SNAI3, SNAI3-AS1 (V182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 151647	GRCh38/hg38 16q24.2-24.3(chr16:88662702-88719577)x1	CTU2, LOC130059740 +16 more	Copy number loss	See cases	GBenign
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic

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: 57