NELFCD[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 3192847	NM_198976.4(NELFCD):c.-23C>T	NELFCD	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3192861	NM_198976.4(NELFCD):c.-20G>A	NELFCD	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2559963	NM_198976.4(NELFCD):c.-9G>C	NELFCD	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2480382	NM_198976.4(NELFCD):c.-3A>G	NELFCD	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2314834	NM_198976.4(NELFCD):c.10G>A (p.Asp4Asn)	NELFCD (D4N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495457	NM_198976.4(NELFCD):c.50A>G (p.Asp17Gly)	NELFCD (D17G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275572	NM_198976.4(NELFCD):c.99G>T (p.Glu33Asp)	NELFCD (E33D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210545	NM_198976.4(NELFCD):c.383C>G (p.Thr128Ser)	NELFCD (T128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299251	NM_198976.4(NELFCD):c.452A>G (p.Tyr151Cys)	NELFCD (Y151C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192850	NM_198976.4(NELFCD):c.701C>T (p.Ala234Val)	NELFCD (A234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299250	NM_198976.4(NELFCD):c.704T>C (p.Met235Thr)	NELFCD (M235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273766	NM_198976.4(NELFCD):c.712G>A (p.Val238Met)	NELFCD (V238M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192858	NM_198976.4(NELFCD):c.797A>G (p.Asp266Gly)	NELFCD (D266G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293605	NM_198976.4(NELFCD):c.915C>G (p.Phe305Leu)	NELFCD (F305L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553174	NM_198976.4(NELFCD):c.925A>G (p.Thr309Ala)	NELFCD (T309A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277465	NM_198976.4(NELFCD):c.932T>C (p.Met311Thr)	NELFCD (M311T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599840	NM_198976.4(NELFCD):c.1021C>A (p.Gln341Lys)	NELFCD (Q341K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240831	NM_198976.4(NELFCD):c.1060G>T (p.Ala354Ser)	NELFCD (A354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192827	NM_198976.4(NELFCD):c.1066A>G (p.Ser356Gly)	NELFCD (S356G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784412	NM_198976.4(NELFCD):c.1344+10C>T	NELFCD	Single nucleotide variant	not provided	GBenign
Select item 2324785	NM_198976.4(NELFCD):c.1348A>G (p.Ser450Gly)	NELFCD (S450G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487369	NM_198976.4(NELFCD):c.1538A>G (p.Lys513Arg)	NELFCD (K513R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192833	NM_198976.4(NELFCD):c.1577C>T (p.Thr526Ile)	NELFCD (T526I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552491	NM_198976.4(NELFCD):c.1693C>T (p.Pro565Ser)	NELFCD (P565S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248275	NC_000020.10:g.(?_56993257)_(57967907_?)dup	APCDD1L, ATP5F1E +14 more	Duplication	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1526693	GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365)	ANKRD60, APCDD1L +25 more	Copy number loss	not specified	GPathogenic
Select item 1374167	NC_000020.10:g.(?_54823900)_(57899514_?)del	ANKRD60, APCDD1L +36 more	Deletion	not provided	GUncertain significance
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic

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Items: 43