ClinVar for Gene (Select 102724555) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3130141	NM_001290258.2(ASB15):c.89C>T (p.Thr30Ile)	ASB15, ASB15-AS1 (T30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130134	NM_001290258.2(ASB15):c.512A>G (p.Asp171Gly)	ASB15, ASB15-AS1 (D171G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130133	NM_001290258.2(ASB15):c.427A>G (p.Lys143Glu)	ASB15, ASB15-AS1 (K143E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130132	NM_001290258.2(ASB15):c.370G>A (p.Val124Met)	ASB15, ASB15-AS1 (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130131	NM_001290258.2(ASB15):c.355G>C (p.Val119Leu)	ASB15, ASB15-AS1 (V119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130130	NM_001290258.2(ASB15):c.207G>A (p.Met69Ile)	ASB15, ASB15-AS1 (M69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612779	NM_001290258.2(ASB15):c.118C>G (p.Leu40Val)	ASB15, ASB15-AS1 (L40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595791	NM_001290258.2(ASB15):c.574A>C (p.Ile192Leu)	ASB15, ASB15-AS1 (I192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558970	NM_001290258.2(ASB15):c.598G>A (p.Gly200Arg)	ASB15, ASB15-AS1 (G200R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263393	NM_001290258.2(ASB15):c.662G>T (p.Gly221Val)	ASB15, ASB15-AS1 (G221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260247	NM_001290258.2(ASB15):c.226G>A (p.Gly76Arg)	ASB15, ASB15-AS1 (G76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259049	NM_001290258.2(ASB15):c.31C>T (p.His11Tyr)	ASB15, ASB15-AS1 (H11Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155415	GRCh38/hg38 7q31.32-31.33(chr7:123303689-124171626)x3	ASB15, ASB15-AS1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 155209	GRCh38/hg38 7q31.32-31.33(chr7:123303689-124164709)x3	ASB15, ASB15-AS1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	AASS, AHCYL2 +492 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 144923	GRCh38/hg38 7q31.32-31.33(chr7:123319393-124170657)x3	ASB15, ASB15-AS1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 23