ClinVar for Gene (Select 146722) - ClinVar

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

Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264814	NM_139018.5(CD300LF):c.291T>G (p.Asp97Glu)	CD300LF, RAB37 (D97E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3140536	NM_139018.5(CD300LF):c.73C>T (p.Pro25Ser)	CD300LF, RAB37 (P25S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3140535	NM_139018.5(CD300LF):c.453G>C (p.Lys151Asn)	CD300LF, RAB37 (K169N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3140534	NM_139018.5(CD300LF):c.448C>T (p.His150Tyr)	CD300LF, RAB37 (A165V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140533	NM_139018.5(CD300LF):c.427G>A (p.Gly143Ser)	CD300LF, RAB37 (G158S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3140532	NM_139018.5(CD300LF):c.323G>A (p.Cys108Tyr)	CD300LF, RAB37 (C108Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2648226	NM_139018.5(CD300LF):c.270G>T (p.Thr90=)	CD300LF, RAB37	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2492484	NM_139018.5(CD300LF):c.818T>C (p.Leu273Pro)	CD300LF, RAB37 (L276P +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2467699	NM_139018.5(CD300LF):c.131C>T (p.Ser44Leu)	CD300LF, RAB37 (S47L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2369134	NM_139018.5(CD300LF):c.164G>A (p.Arg55Gln)	CD300LF, RAB37 (R55Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271902	NM_139018.5(CD300LF):c.823G>A (p.Gly275Ser)	CD300LF, RAB37 (G275S +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
Select item 2252081	NM_139018.5(CD300LF):c.172A>C (p.Ile58Leu)	CD300LF, RAB37 (I58L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2249530	NM_139018.5(CD300LF):c.746A>G (p.Tyr249Cys)	CD300LF, RAB37 (Y249C +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2233524	NM_139018.5(CD300LF):c.604G>A (p.Asp202Asn)	RAB37, CD300LF (D202N +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2229128	NM_139018.5(CD300LF):c.110C>T (p.Thr37Ile)	CD300LF, RAB37 (T37I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2221572	NM_139018.5(CD300LF):c.236G>C (p.Arg79Pro)	CD300LF, RAB37 (R79P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2216018	NM_139018.5(CD300LF):c.665C>T (p.Thr222Met)	CD300LF, RAB37 (T225M +2 more)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2210761	NM_139018.5(CD300LF):c.269C>T (p.Thr90Met)	CD300LF, RAB37 (T93M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206337	NM_139018.5(CD300LF):c.460A>C (p.Lys154Gln)	CD300LF, RAB37 (K154Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1340830	GRCh37/hg19 17q25.1(chr17:71813960-72707349)x3	BTBD17, CD300A +13 more	Copy number gain	not provided	GLikely benign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 625759	GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	BTBD17, ARMC7 +40 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564470	GRCh37/hg19 17q25.1(chr17:71810700-72702515)x3	BTBD17, CD300A +13 more	Copy number gain	not provided	GLikely benign
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 59733	GRCh38/hg38 17q25.1(chr17:73851698-74732123)x3	BTBD17, CD300A +44 more	Copy number gain	See cases	GBenign
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 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: 33