ClinVar for Gene (Select 100529241) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3526991	NM_002157.3(HSPE1):c.298T>C (p.Tyr100His)	HSPE1, HSPE1-MOB4 (Y100H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3345287	NM_002157.3(HSPE1):c.110C>G (p.Ser37Cys)	HSPE1, HSPE1-MOB4 (S37C)	Single nucleotide variant (missense variant)	HSPE1-related condition	GUncertain significance
Select item 3284977	NM_002157.3(HSPE1):c.247C>A (p.Leu83Ile)	HSPE1, HSPE1-MOB4 (L83I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187345	NM_015387.5(MOB4):c.23C>T (p.Ala8Val)	HSPE1-MOB4, LOC129935361 +1 more (A8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107400	NM_001202485.2(HSPE1-MOB4):c.395C>T (p.Thr132Ile)	HSPE1-MOB4, MOB4 (T132I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107399	NM_002157.3(HSPE1):c.278A>T (p.Asp93Val)	HSPE1, HSPE1-MOB4 (D93V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482457	NM_002157.3(HSPE1):c.209A>C (p.Lys70Thr)	HSPE1, HSPE1-MOB4 (K70T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 637952	NM_002157.3(HSPE1):c.217C>T (p.Leu73Phe)	HSPE1-MOB4, HSPE1 (L73F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 154446	GRCh38/hg38 2q33.1(chr2:197125460-199741748)x1	LOC129935350, LOC129935351 +69 more	Copy number loss	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 57395	GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1	ANKRD44, ANKRD44-AS1 +118 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 22