LOC126807633[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	LOC129995377, LOC129995378 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	ADAMTS2, ARL10 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	ADAMTS2, ARL10 +386 more	Copy number loss	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	LOC129995370, LOC129995371 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance
Select item 147753	GRCh38/hg38 5q35.3(chr5:180636182-181269805)x3	BTNL3, BTNL8 +90 more	Copy number gain	See cases	GUncertain significance
Select item 2380416	NM_001040462.3(BTNL8):c.1003A>G (p.Ser335Gly)	BTNL8, LOC126807633 (S151G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477960	NM_001040462.3(BTNL8):c.1039G>A (p.Gly347Arg)	BTNL8, LOC126807633 (G347R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352171	NM_001040462.3(BTNL8):c.1063G>A (p.Val355Met)	BTNL8, LOC126807633 (V230M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302862	NM_001040462.3(BTNL8):c.1105G>A (p.Val369Met)	BTNL8, LOC126807633 (V244M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412312	NM_001040462.3(BTNL8):c.1148A>G (p.Asn383Ser)	BTNL8, LOC126807633 (N258S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476758	NM_001040462.3(BTNL8):c.1249A>G (p.Thr417Ala)	BTNL8, LOC126807633 (T233A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234033	NM_001040462.3(BTNL8):c.1366C>T (p.Pro456Ser)	BTNL8, LOC126807633 (P272S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234228	NM_001040462.3(BTNL8):c.1370T>C (p.Ile457Thr)	BTNL8, LOC126807633 (I332T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236851	NM_001040462.3(BTNL8):c.1387A>T (p.Thr463Ser)	BTNL8, LOC126807633 (T279S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369916	NM_001040462.3(BTNL8):c.1423G>A (p.Ala475Thr)	BTNL8, LOC126807633 (A350T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359477	NM_001040462.3(BTNL8):c.1475C>T (p.Thr492Met)	BTNL8, LOC126807633 (T367M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513658	NM_001040462.3(BTNL8):c.1499T>G (p.Met500Arg)	BTNL8, LOC126807633 (M375R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 21