ClinVar for Gene (Select 285343) - ClinVar

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

Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3175034	NM_173826.4(TCAIM):c.998A>T (p.Gln333Leu)	TCAIM (Q333L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175033	NM_173826.4(TCAIM):c.979G>A (p.Val327Ile)	TCAIM (V327I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175032	NM_173826.4(TCAIM):c.968G>A (p.Gly323Asp)	TCAIM (G323D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175031	NM_173826.4(TCAIM):c.83C>T (p.Ser28Leu)	TCAIM (S28L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175030	NM_173826.4(TCAIM):c.835G>A (p.Val279Met)	TCAIM (V135M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175029	NM_173826.4(TCAIM):c.724C>T (p.Arg242Cys)	TCAIM (R98C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175028	NM_173826.4(TCAIM):c.495G>T (p.Lys165Asn)	TCAIM (K165N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175027	NM_173826.4(TCAIM):c.425A>G (p.Asn142Ser)	TCAIM (N142S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175026	NM_173826.4(TCAIM):c.295G>A (p.Gly99Ser)	TCAIM (G99S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175025	NM_173826.4(TCAIM):c.1172T>C (p.Leu391Pro)	TCAIM (L247P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175024	NM_173826.4(TCAIM):c.1085G>A (p.Arg362Gln)	TCAIM (R218Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3175023	NM_173826.4(TCAIM):c.1038T>A (p.Asp346Glu)	TCAIM (D346E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552921	NM_173826.4(TCAIM):c.721C>T (p.His241Tyr)	TCAIM (H241Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517524	NM_173826.4(TCAIM):c.788C>T (p.Ala263Val)	TCAIM (A119V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471590	NM_173826.4(TCAIM):c.838G>A (p.Gly280Ser)	TCAIM (G136S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402454	NM_173826.4(TCAIM):c.157G>A (p.Val53Ile)	TCAIM (V53I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2345307	NM_173826.4(TCAIM):c.650G>A (p.Arg217His)	TCAIM (R217H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254622	NM_173826.4(TCAIM):c.551C>T (p.Ser184Leu)	TCAIM (S184L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242453	NM_173826.4(TCAIM):c.1249G>A (p.Glu417Lys)	TCAIM (E417K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216272	NM_173826.4(TCAIM):c.1388A>T (p.Tyr463Phe)	TCAIM (Y319F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213846	NM_173826.4(TCAIM):c.1208C>A (p.Thr403Asn)	TCAIM (T259N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204864	NM_173826.4(TCAIM):c.263A>T (p.Tyr88Phe)	TCAIM (Y88F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 814439	GRCh37/hg19 3p21.31(chr3:44444902-45413927)x1	CDCP1, CLEC3B +16 more	Copy number loss	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253640	GRCh37/hg19 3p22.1-21.31(chr3:41104508-44636698)x1	HHATL, ZKSCAN7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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: 28