LOC101929718[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 57747	GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1	ARHGEF40, CHD8 +48 more	Copy number loss	See cases	GPathogenic
Select item 3125480	NM_022734.3(METTL17):c.956A>G (p.Lys319Arg)	LOC101929718, METTL17 (K319R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3294422	NM_022734.3(METTL17):c.961C>T (p.Pro321Ser)	LOC101929718, METTL17 (P321S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3125481	NM_022734.3(METTL17):c.995C>G (p.Pro332Arg)	LOC101929718, METTL17 (P332R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2549237	NM_022734.3(METTL17):c.1055C>T (p.Ala352Val)	LOC101929718, LOC126861882 +1 more (A352V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2235261	NM_022734.3(METTL17):c.1091C>G (p.Pro364Arg)	LOC101929718, LOC126861882 +1 more (P364R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399763	NM_022734.3(METTL17):c.1111A>G (p.Met371Val)	LOC101929718, LOC126861882 +1 more (M371V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125473	NM_022734.3(METTL17):c.1127G>A (p.Arg376Gln)	LOC101929718, LOC126861882 +1 more (R376Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282740	NM_022734.3(METTL17):c.1129G>A (p.Gly377Arg)	LOC101929718, LOC126861882 +1 more (G377R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401002	NM_022734.3(METTL17):c.1130G>A (p.Gly377Glu)	LOC101929718, LOC126861882 +1 more (G377E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125474	NM_022734.3(METTL17):c.1150C>T (p.Arg384Cys)	LOC101929718, LOC126861882 +1 more (R384C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352862	NM_022734.3(METTL17):c.1151G>A (p.Arg384His)	LOC101929718, LOC126861882 +1 more (R384H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125475	NM_022734.3(METTL17):c.1190G>A (p.Arg397His)	LOC101929718, LOC126861882 +1 more (R397H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264778	NM_022734.3(METTL17):c.1266-27A>G	LOC101929718, LOC126861882 +1 more (S438G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125476	NM_022734.3(METTL17):c.1346C>T (p.Thr449Met)	LOC101929718, LOC126861882 +1 more (T449M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2258921	NM_022734.3(METTL17):c.1354G>T (p.Asp452Tyr)	LOC101929718, LOC126861882 +1 more (G476V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 27