ClinVar for Gene (Select 221481) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315392	NM_001286574.2(ARMC12):c.322A>G (p.Thr108Ala)	ARMC12 (T108A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315388	NM_001286574.2(ARMC12):c.460G>C (p.Val154Leu)	ARMC12 (V181L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315381	NM_001286574.2(ARMC12):c.980C>A (p.Ser327Tyr)	ARMC12 (S327Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315360	NM_001286574.2(ARMC12):c.541G>A (p.Asp181Asn)	ARMC12 (D208N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129608	NM_001286574.2(ARMC12):c.458A>T (p.Lys153Ile)	ARMC12 (K153I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129607	NM_001286574.2(ARMC12):c.52G>A (p.Val18Ile)	ARMC12 (V18I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129606	NM_001286574.2(ARMC12):c.326C>T (p.Thr109Met)	ARMC12 (T136M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024457	NM_001286574.2(ARMC12):c.686G>A (p.Cys229Tyr)	ARMC12 (C229Y +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 90	GPathogenic
Select item 3024456	NM_001286574.2(ARMC12):c.632G>A (p.Arg211Gln)	ARMC12 (R211Q +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 90	GPathogenic
Select item 3024455	NM_001286574.2(ARMC12):c.635T>C (p.Leu212Pro)	ARMC12 (L212P +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 90	GPathogenic
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2656510	NM_001286574.2(ARMC12):c.213G>A (p.Arg71=)	ARMC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615243	NM_001286574.2(ARMC12):c.185G>A (p.Arg62Gln)	ARMC12 (R62Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612735	NM_001286574.2(ARMC12):c.163+19G>C	ARMC12 (G61A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528452	NM_001286574.2(ARMC12):c.542A>G (p.Asp181Gly)	ARMC12 (D208G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511567	NM_001286574.2(ARMC12):c.194G>A (p.Arg65Gln)	ARMC12 (R65Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508431	NM_001286574.2(ARMC12):c.784C>T (p.Arg262Trp)	ARMC12 (R252W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455726	NM_001286574.2(ARMC12):c.311C>T (p.Ala104Val)	ARMC12 (A104V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2397023	NM_001286574.2(ARMC12):c.938T>C (p.Ile313Thr)	ARMC12 (I303T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389315	NM_001286574.2(ARMC12):c.1016C>T (p.Thr339Met)	ARMC12 (T366M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357320	NM_001286574.2(ARMC12):c.466G>A (p.Glu156Lys)	ARMC12 (E156K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330719	NM_001286574.2(ARMC12):c.43C>T (p.Arg15Cys)	ARMC12 (R15C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325066	NM_001286574.2(ARMC12):c.163+38G>C	ARMC12 (Q67H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291134	NM_001286574.2(ARMC12):c.994A>G (p.Ser332Gly)	ARMC12 (S332G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265473	NM_001286574.2(ARMC12):c.863C>T (p.Ser288Phe)	ARMC12 (S278F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246417	NM_001286574.2(ARMC12):c.346G>A (p.Gly116Ser)	ARMC12 (G116S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 161808	NM_001286574.2(ARMC12):c.601G>T (p.Asp201Tyr)	ARMC12 (D228Y +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 92028	NM_001286574.2(ARMC12):c.163+28C>T	ARMC12 (A64V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 36