ClinVar for Gene (Select 25852) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315748	NM_001363941.2(ARMC8):c.1735A>C (p.Ile579Leu)	ARMC8, NME9 (I506L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315739	NM_001363941.2(ARMC8):c.593C>T (p.Thr198Ile)	ARMC8 (T167I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129676	NM_001363941.2(ARMC8):c.929C>G (p.Pro310Arg)	ARMC8 (P237R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129675	NM_001363941.2(ARMC8):c.808C>T (p.Arg270Trp)	ARMC8 (R197W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129674	NM_001363941.2(ARMC8):c.322C>G (p.Pro108Ala)	ARMC8 (P108A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129673	NM_001363941.2(ARMC8):c.1648A>G (p.Ser550Gly)	ARMC8, NME9 (S519G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129672	NM_001363941.2(ARMC8):c.1528A>G (p.Ser510Gly)	ARMC8, NME9 (S443G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129671	NM_001363941.2(ARMC8):c.1126C>T (p.Arg376Trp)	ARMC8 (R334W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671581	Single allele	TFDP2, TRIM42 +26 more	Deletion	not provided	GPathogenic
Select item 2606509	NM_001363941.2(ARMC8):c.395T>C (p.Ile132Thr)	ARMC8 (I90T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604768	NM_001363941.2(ARMC8):c.482G>A (p.Arg161His)	ARMC8 (R119H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520079	NM_001363941.2(ARMC8):c.809G>A (p.Arg270Gln)	ARMC8 (R228Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490533	NM_001363941.2(ARMC8):c.659C>T (p.Pro220Leu)	ARMC8 (P178L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426786	NC_000003.11:g.(?_137781658)_(138665815_?)del	A4GNT, ARMC8 +9 more	Deletion	not provided	GPathogenic
Select item 2346415	NM_001363941.2(ARMC8):c.1408G>A (p.Val470Ile)	ARMC8, NME9 (V397I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343683	NM_001363941.2(ARMC8):c.886G>C (p.Glu296Gln)	ARMC8 (E265Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320057	NM_001363941.2(ARMC8):c.917A>G (p.Tyr306Cys)	ARMC8 (Y264C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318430	NM_001363941.2(ARMC8):c.363T>A (p.Phe121Leu)	ARMC8 (F79L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316379	NM_001363941.2(ARMC8):c.877T>G (p.Leu293Val)	ARMC8 (L220V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314545	NM_001363941.2(ARMC8):c.811A>G (p.Thr271Ala)	ARMC8 (T257A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293637	NM_001363941.2(ARMC8):c.356T>C (p.Leu119Pro)	ARMC8 (L77P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277142	NM_001363941.2(ARMC8):c.1996A>G (p.Met666Val)	ARMC8, NME9 (M624V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271757	NM_001363941.2(ARMC8):c.330A>C (p.Leu110Phe)	ARMC8 (L96F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234834	NM_001363941.2(ARMC8):c.274A>G (p.Met92Val)	ARMC8 (M78V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1411280	NC_000003.11:g.(?_137781658)_(139258560_?)dup	A4GNT, ARMC8 +17 more	Duplication	not provided	GUncertain significance
Select item 1331617	NM_001363941.2(ARMC8):c.1998G>C (p.Met666Ile)	ARMC8, NME9 (M593I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 686241	GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3	A4GNT, ARMC8 +31 more	Copy number gain	not provided	GUncertain significance
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253333	GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3	ARMC8, ZBTB38 +36 more	Copy number gain	See cases	GLikely pathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 57795	GRCh38/hg38 3q22.3-23(chr3:138296035-139015548)x3	ARMC8, CEP70 +24 more	Copy number gain	See cases	GUncertain significance
Select item 57794	GRCh38/hg38 3q22.3(chr3:137593514-138443019)x3	A4GNT, ARMC8 +16 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 46