ClinVar for Gene (Select 100130950) - ClinVar

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

Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316467	NM_207103.3(SCIMP):c.268T>G (p.Ser90Ala)	SCIMP, ZNF594-DT (S83A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316466	NM_207103.3(SCIMP):c.76G>A (p.Ala26Thr)	SCIMP, ZNF594-DT (A26T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158423	NM_207103.3(SCIMP):c.86T>C (p.Val29Ala)	SCIMP, ZNF594-DT (V29A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158422	NM_207103.3(SCIMP):c.85G>A (p.Val29Ile)	SCIMP, ZNF594-DT (V29I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3158421	NM_207103.3(SCIMP):c.227C>T (p.Ser76Leu)	SCIMP, ZNF594-DT (S69L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158420	NM_207103.3(SCIMP):c.179A>G (p.His60Arg)	SCIMP, ZNF594-DT (H53R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2220155	NM_207103.3(SCIMP):c.12C>A (p.Phe4Leu)	SCIMP, ZNF594-DT (F4L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2219795	NM_207103.3(SCIMP):c.271C>G (p.Leu91Val)	SCIMP, ZNF594-DT (L91V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 813014	NM_207103.3(SCIMP):c.99T>C (p.Gly33=)	SCIMP, ZNF594-DT	Single nucleotide variant (non-coding transcript variant +1 more)	Head and neck cancer	GUncertain significance
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153248	GRCh38/hg38 17p13.2(chr17:4915519-5197126)x1	CAMTA2, CAMTA2-AS1 +48 more	Copy number loss	See cases	GLikely pathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	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: 22